Phenylketonuria (PKU) The Child with PKU

A Publication of
Department of Pediatrics
University of Texas Medical Branch
Galveston, TX 77555-0319
Copyright (C) 1995

Dedicated to Robert Guthrie, M.D., Ph.D. (1916 - 1995)

Dr. Guthrie developed the PKU screening test for newborns. The test has saved an estimated 30,000 people from mental retardation. His research was inspired by his son and his niece. The son had non-PKU mental retardation and his niece, born in 1958, was diagnosed with PKU at the age of 17 months. Dr. Guthrie developed the test in the early 1960s and lobbied for mandatory screening of PKU. The Guthrie test, used throughout the U.S. and 23 countries, opened the door to screening for and prevention of mental retardation in other disorders.

The authors encourage the widespread reproduction and distribution of these materials for any educational and/or patient care related purpose and ask only that the source of the materials be acknowledged.

We hope this booklet will be a useful guide for you.

*This PKU module was originally authored in 1995. Minor updates have been made to this webpage.

Table of Contents

Part I EXPLANATION OF PKU

What is PKU?
What is the Treatment for PKU?
How is the Treatment Evaluated?
How Did My Child Get PKU?
Conclusion
Highlights in the History of PKU
References for Discontinuing the Diet

Part II CARE OF THE CHILD WITH PKU

The Role of Grandparents
Starting Solid Foods
Weaning
Self-Feeding
Illness  
Dental Health
NutraSweet®
Advice from the Child Psychologist
Special Diets in the School
Parents’ Letters
List of Parents You May Contact
PKU Support Groups, Newsletters and Camps

Appendices:

1. Low Protein Food Distributors
2. Directions for Diet Record Sheets
3. Suggestions for Flavoring Formula
4. Materials Available
5. Glossary
6. Diet Record

PART I: EXPLANATION OF PKU

What is PKU? When parents are informed that their child has PKU their first question is, “What is PKU?” This booklet is designed to answer several questions parents ask. In order to understand PKU there are several terms that need to be defined.

1. PKU is an inherited condition in which the body cannot use in the normal way one part of protein, phenylalanine (fenel-al-ah-neen), found in foods.
2. PKU stands for phenylketonuria (fenel-key-ton-ur-ee-a), which means phenylketones (fenel-key-tones) in the urine.
3. Phenylketones are metabolites of phenylalanine (fenel-al-ah-neen), a breakdown product from protein foods.
4. Metabolites (me-tab-o-lites) are end products of biochemical changes which occur when the body uses food for energy or growth.
5. Biochemical changes are changes that take place within the cells of the body.
   
   The biochemical changes related to PKU involve protein, which is necessary for growth and development. Protein is made of building blocks called amino acids (ah-mee-no acids) fastened in a chain as shown in Figure 1. In this booklet, phenylalanine will be called PHE.

Figure 1: Proteins are made of Amino Acids fastened in a chain. Phenylalanine (PHE) is an amino acid.

Amino acids are described as either “essential” or “non-essential.” Essential amino acids are necessary for growth and must be supplied in the diet since the body cannot make them. Non-essential amino acids are also required but are made by the body. The two amino acids involved in PKU are the essential amino acid phenylalanine and the non-essential amino acid tyrosine (ti-ro-seen). Since the conversion of PHE to Tyrosine is not made in the body of the person with PKU, Tyrosine becomes an essential amino acid and must be given in the diet.

The child who does not have PKU changes phenylalanine to tyrosine. Tyrosine is used by the body to form pigments and hormones. Pigments provide skin and hair coloring while hormones, made from tyrosine, are important to the function of the brain and central nervous system. Hormones are chemicals made in the glands and released into the blood stream. Together with the nervous system, hormones coordinate and control organs so that all parts of the body work together smoothly and efficiently. Figure 2 shows the normal change as PHE becomes tyrosine in the liver. The change is due to the action of an enzyme (enzime). Enzymes are chemical compounds that help one substance change into another. The enzyme that changes PHE to Tyrosine is called phenylalanine hydroxylase (hi-drox-ill-ace).



Figure 2: In a person who does not have PKU, an enzyme in the liver changes PHE into Tyrosine. Tyrosine is used to form pigments and hormones.

The child with PKU has only a limited ability to change PHE into tyrosine because the enzyme does not work properly. Therefore, excess PHE builds up as shown in Figure 3. Part of the excess PHE goes into urine and part is changed into harmful products which appear in the blood and circulates to all parts of the body, including the brain, and then are lost in the urine. These harmful products in the urine are called phenylketones (fenel-key-tones) from which the condition gets the name: phenylketonuria.



Figure 3: In a person with PKU, the enzyme does not work properly causing PHE to build up. The infant with PKU who is not diagnosed and treated early in life may have the following symptoms and/or signs:

1. High level of PHE in blood
2. Excessive irritability
3. Vomiting
4. Poor appetite
5. Weight loss and poor rate of growth or height
6. Skin rash
7. Musty odor of body and urine
8. Seizures and tremors
9. Skin and hair coloring lighter than parents and siblings due to lack of pigment
10. Developmental delays

Developmental delays mean that the child does not sit up, crawl, walk, or talk at the usual age. By the time these delays are noticed by parents, the damage usually cannot be repaired. The delays are caused by damage to the central nervous system, including the brain. The brain damage caused by untreated PKU is thought to be due to excess amounts of PHE in the body, harmful metabolites, or deficiency of tyrosine. When PKU is not treated early in life, the child usually becomes mentally retarded.

What is the Treatment for PKU? A special diet is the only treatment for PKU at this time. The purpose of the diet is to maintain the PHE blood levels in safe range and to provide all the nutrients needed for normal growth and development. A safe range is considered to be a blood level that is between 2 to 6 milligrams per deciliter (mg/dL). Each child’s need for PHE is individual and depends on the activity of his/her enzyme. Therefore, the diet is personalized to meet the needs of your child. Frequent diet changes may be necessary.

A normal diet contains more PHE than is needed by the body. Persons who do not have PKU have normal biochemical pathways to use the excess PHE. The PKU diet lowers the PHE intake to supply just enough PHE for growth and maintenance, and furnishes the Tyrosine that the child with PKU cannot make. Altering the diet in this manner causes the PHE blood levels to drop and prevents the harmful metabolites from being formed. Detection and treatment of PKU prevents mental retardation.

The PKU diet reverses the symptoms and/or signs of PKU when begun early in life. The following changes are usually noted:

1. PHE blood levels are lower
2. Irritability ceases
3. Vomiting ceases
4. Appetite improves
5. Weight and length increase at a normal rate
6. Skin rash disappears
7. Musty odor disappears
8. Seizures cease, tremors are fewer
9. Coloring is similar to that of parents and siblings
10. Normal development occurs

To provide the protein your child needs for growth and development, a special formula (medical food) is required. A number of Medical Foods are available to provide a protein source without PHE. The staff at the PKU Center will select the product best for your child.

The protein found in foods consists of about 5% PHE; therefore, the foods high in protein are high in PHE. The only foods that contain no PHE are sugar, oil, pure starch, water and products made with these ingredients. High protein foods such as meat, fish, eggs, dairy products, nuts, dried beans, and dried peas are not allowed in the PKU diet.

Since PHE is an essential amino acid, measured amounts of PHE are allowed in the form of low protein foods such as fruits, vegetables and cereals. The diet is unique for each child, since no two children with PKU have the same level of tolerance and requirements. A diet that is too low in PHE may cause PHE deficiency, which would be harmful to your child. Without PHE in the diet, the child will not grow normally.

Your nutritionist will assist you in planning a diet to meet the milligrams (mg) of PHE prescribed for your little one. As your baby progresses to baby foods, you will receive a meal pattern guide and lists of foods stating the number of milligrams of PHE per serving. Later, lists will be provided for table foods and “free” foods which contain little or no PHE.

Low PHE cookbooks using special products are available for making foods for PKU children. Low protein foods are necessary to provide calories. The products include low protein bread, noodles, cookies, baking mix and wheat starch. The baking mix and wheat starch is used in place of flour for baking bread, cakes, and cookies low in PHE. Appendix A contains addresses of distributors.

How is the Treatment Evaluated? The four tools used for evaluating the diet are blood tests, diet records, growth charts, and assessments at the PKU Treatment Center. Blood tests are taken on a regular basis to determine the amount of PHE in the blood. There is no other way of finding out if the blood PHE level is in a safe range. Your nutritionist will provide diet record forms for you to write down your baby’s intake for three days prior to the blood test. The diet records are mailed to the PKU Center. The nutritionist calculates the intake from the foods listed on the diet record to determine if the proper nutrients are prescribed and to establish the child’s PHE level of tolerance.

There is no way to treat PKU without the diet record. Changes in the diet cannot be made without the diet record. The diet record is as important in treating PKU as antibiotics are in treating an infection. Directions for diet records and blood tests are listed in Appendix B.

The growth measurements written on the diet records at the time of the blood test are plotted on a growth chart by the nutritionist to determine if your child is growing at a normal rate. The nutritionist and physician at the PKU Center compare the results of the blood test, dietary intake from the diet record, and the growth chart before making dietary changes.

Periodic assessments of your child are made by a team of professionals at the PKU Center. Team members most frequently involved with evaluating your child are the physician, nutritionist, nurse, and psychologist, who will study your child’s physical, neurological, and developmental progress. Family members have the opportunity to express their concerns during the clinic visit. Nutrition education and counseling sessions are provided.

How Do You Know My Child Has PKU? In 1965, the 59th Texas Legislature passed a law that requires all Texas newborns to have a screening test 24 hours after the ingestion of protein (breastmilk or formula) to determine the PHE blood level. Infants are retested when 1 to 2 weeks old for elevated PHE blood levels.

Blood was collected from your infant’s heel on a special filter paper and mailed to the Texas Department of State Health Services (DSHS) in Austin, Texas. The Newborn Screening Laboratory checked the blood by a Guthrie test to measure the blood PHE level. When this test was found to be positive (greater than 4 milligrams of PHE per deciliter (mg/dL) of blood) the Newborn Screening staff of the Texas Department of State Health Services informed your physician. The staff recommended a second blood test to measure your baby’s levels of PHE and tyrosine, and provided a listing of PKU Treatment Centers.

When the results of the second testing revealed that the level of PHE was greater than 10 mg/dL and tyrosine was normal, a diagnosis of PKU was assumed. Normal levels are less than 4 mg/dL PHE and less than 3 mg/dL tyrosine. Usually the baby’s physician refers the child to the PKU Treatment Center at this time.

The PKU Center schedules an appointment for the infant and family to confirm the diagnosis by additional blood tests. Blood and urine are screened for other enzyme defects. A diagnosis of classical, atypical or mild PKU is made on the basis of the laboratory findings.

Different types of PKU There are three known types of Hyperphenylalaninemia (increased amounts of PHE in the blood -- may be referred to as Hyperphe): they are classified by the amount of PHE that can be measured in the blood. Blood PHE is reported by the laboratory as mg/dL (milligrams per deciliter) or mmol/L (micromoles per liter) of blood. The chart below lists the three types of Hyperphe: Mild Hyperphe, Atypical PKU and Classical PKU.

The child with Mild Hyperphe usually does not need a special diet. However, women with Mild Hyperphe should have their blood levels checked before conception and during pregnancy because they may need to be on a diet low in PHE during the pregnancy to protect the unborn baby from birth defects.

A child with Atypical PKU or Hyperphe Variant requires a low PHE diet during childhood. Women who are classified as Atypical PKU must be on a low PHE diet before and during pregnancy.

Persons with Classical PKU should continue the low PHE diet throughout life. Women with Classical PKU must be on the low PHE diet before and during pregnancy in order to have the best chance of having a healthy baby.

After the diagnosis is confirmed, the PKU Center prescribes the medical food. The PKU Center monitors blood levels of PHE, diet records, growth rates and schedules follow-up appointments for evaluations by the PKU team.

Your baby’s physician continues to provide primary care, including immunizations. Since fever usually drives PHE up, the PKU Center suggests that the child’s physician treat infections promptly. Immunizations also may cause an increase in PHE level, therefore, they should be given after a blood specimen is obtained. The PKU Center and your child's physician maintain current records regarding the dietary care of your child.

The number of Classical PKU cases diagnosed in Texas was seven in 1996, five in 1997, 11 in 1998, and 11 in 1999. There were around 340,000 live births registered in Texas in 1999. Since PKU is a rare condition, you may have never heard of it before you were told your baby had PKU.

How Did My Child Get PKU? Genes are responsible for your child’s characteristics, such as eye color and height. Genes are also responsible for instructing the cells in the liver to make the enzyme that changes PHE to tyrosine. When the gene responsible for making this enzyme is altered, PKU occurs. The family tree is a simple illustration of how the altered gene is passed from grandparents, to you and to your child.

Genes are units of inheritance found in body cells. Genes come in pairs in your cells with each parent contributing one gene to the pair in each cell. A person who has one “normal” gene and one altered PKU gene is called a carrier.

Generation I represents the possible genetic make-up of the grandparents. One of the maternal grandparents and one of the paternal grandparents are carriers of the PKU gene. One in 70 persons are carriers of the PKU gene. PKU is carried by either sex.

Generation II represents you the parents, both of you are carriers of the PKU gene. The chance of two carriers marrying is one in 5,000.

Generation III represents the genetic make-up of your child with PKU and the possible make-up of other children in your family. For each pregnancy there is a one in four chance the child will have PKU. Your child inherited the PKU genes from each parent. PKU occurs once in 20,000 births.

You and your grandparents probably were not aware that you were carriers of the PKU gene. This is because the carrier’s “normal” gene tells the liver cells to make enough of the enzyme to breakdown PHE. Parents and grandparents carry the PKU gene but do not have the disorder.

How Long Should the Low PHE Diet Be Continued? PKU Treatment Centers recommend that all persons with PKU remain on the PHE restricted diet for life. In the past, some children were taken off the diet around the time they started school. A long-term research study of PKU children called the Collaborative Study of Children Treated with Phenylketonuria (Koch, 1982, 1984, 1985) determined that children should remain on the diet. Stopping the diet around age six may not allow expected growth in mental abilities. Some of the children taken off the diet began to lose IQ points and showed a drop in school performance.

It is especially important that girls with PKU continue their low-PHE medical food in the event they decide to have children of their own. Women who discontinued the diet and stopped drinking the medical food have difficulty returning to the medical food. It is essential that a woman with PKU be in good dietary control before becoming pregnant in order to have a better chance of having a normal baby. The unborn baby needs the right amount of PHE and tyrosine to grow and develop normally. If the pregnant woman has high PHE blood levels and no source of tyrosine, the baby will be mentally retarded and have other birth defects. For further information, you may order the booklets on Maternal PKU listed in Appendix D.

Women with PKU who were off the low PHE diets have delivered babies with the following problems: mental retardation, small head size, heart disease, low birth weight and other defects. Women with PKU in good dietary control prior to the pregnancy and during the pregnancy have delivered babies who look healthy at birth. The special diet used during childhood is not adequate for pregnancy. The PKU Center staff should be contacted as young women approach childbearing age to discuss the genetics of PKU and dietary requirements before and during pregnancy.

Conclusion Parents who helped develop this booklet asked that we conclude Part I with the following statement as words of encouragement to new parents. Well treated children with PKU are growing and developing at a normal rate. Success depends on early treatment, following the diet, having regular blood tests, and sending diet records with growth measurements. Several of these parents have listed their names, phone numbers and addresses in Part II so you may call them for support.

Highlights in the History of PKU

1934 - Dr. Asbjørn Følling's discovery of PKU in Norway identified phenylpyruvic acid in the urine of two mentally retarded siblings.

1937 - George Jervis found the defect is due to the absence of the enzyme phenylalanine hydroxylase.

1950s - Diet modification was used to control PHE levels.

1961 - Dr. Robert Guthrie developed the PKU screening test for newborns.

1965 - The State of Texas 59th Legislature passed a law requiring screening for all newborns.

1967 - Collaborative Study of Children Treated for Phenylketonuria began.

1984 - Effects of Maternal PKU on Pregnancy Outcomes Study began.

References for Discontinuing Diet

Holtzman, N., Kronman, R., van Doornik, W., Azen, C., Koch, R., "Effect of Age at Loss of Dietary Control on Intellectual Performance and Behavior of Children with Phenylketonuria," The New England Journal of Medicine Vol 314 No 10 (March 1996) 593-598.

Koch, Richard, C.G. Azen, E.G. Friedman, M.L. Williamson, "Preliminary Report on the Effects of Diet Discontinuation in PKU.: The Journal of Pediatrics Vol 100, No 6 (June, 1982) 870-875.

Koch, R., C. Azen, E.G. Friedman, M.L. Williamson, "Paired Comparison between Early Treated PKU Children and their Matched Sibling Controls on Intelligence and School Achievement Test Results at Eight Years of Age." Journal of Inherited Metabolic Disease 7 (1984) 86-90.

Koch, R., C. G. Azen, E.G. Friedman, M.L. Williamson, K. Michals, Report on the Collaborative Study of Children Treated for Phenylketonuria in R.A. Wapnir "Ed.", Congenital Metabolic Diseases Diagnosis and Treatment. New York: Marcel Dekker, Inc. (1985) 137-151.

Shaw, D.W.W., et al, "Magnetic Resonance Imaging in PKU: Changes in Brain White Matter ", Amer. J. Neurorad.:12,403406, 1991.

PART II: CARE OF THE CHILD WITH PKU

Role of the Grandparents Grandparents can be a positive influence by supporting the diet for the PKU child. In many cases the child’s first opportunity to eat away from home and away from parents is in the home of grandparents. The following is a list of suggestions for grandparents:

1. Go to the PKU Center for family education sessions if possible.
2. Read all the PKU materials given to parents so you understand the condition.
3. Help parents to accept the diagnosis.
4. Inform other family members that PKU is inherited. Stress the importance of checking all newborns in your family for PKU.
5. Become knowledgeable about the diet. Learn how to mix the medical food. This will prepare you to provide dietary care in family emergencies.
6. Obtain a written diet to follow when the child eats in your home. Ask questions about foods not listed on the diet lists before serving them. Keep a written record of the amounts of formula and food the child eats while the parents are away.
7. Support the diet in every detail and help the other children in understanding the diet.
8. Help the child in forming inner controls in food selection.
9. Keep foods that the child may eat such as fruits, vegetables, and PHE-free foods at your home.
10. Take the child to the grocery store with his/her own shopping list of foods allowed on the diet.
11. Talk about subjects other than food during mealtime.
12. Prepare special foods such as low protein breads, spaghetti, cookies, or desserts. Ask the child to assist in the preparation of the foods.
13. Find ways of rewarding the child other than offering foods, such as reading a book, walking in the park or zoo, attending a special movie, or sharing family stories.
14. Help with fund-raising projects for PKU parent support groups.
15. DO NOT allow the child to have restricted food or set up secrets with the child by saying, “Don’t tell your parents, and I will buy ice cream for you.” These secrets usually surface when the blood level is checked and parents begin to investigate. Children become confused if parents and grandparents have different dietary rules.
16. DO NOT give the child tastes of restricted foods such as meat, eggs, or nuts to show the child what he/she is missing.
17. DO NOT remind the child that the other grandchildren have different foods.

You can help your grandchild to grow and develop normally by assisting parents with good dietary management.

Starting Solid Foods Solid foods are started for the infants with PKU at the same time other babies begin at 4 to 6 months of age. Figure 4 outlines the usual progression in adding foods as his/her age advances. Since each child’s readiness skills develop at different times, your PKU Center along with your child's physician will assist you in making these decisions. Usually the amount of breast milk or formula used in the medical food is reduced to allow extra milligrams of PHE for the food. Your nutritionist will outline a menu for your baby, using food lists stating PHE values. You should use only foods on the food lists.

Introduction of Solid Foods*

Figure 4: *Provided by the Bureau of Nutrition Services, Arizona Dept. Of Health.

Foods are added to the PKU child’s diet in the same manner they are added to the diet of other children. Introduce foods one at a time, allowing 5 days between new foods. This will allow you to determine if the new food causes an allergic reaction or does not agree with your child. For example, when you add carrots, wait 5 days before adding squash to the diet. The difference in the PKU diet is that you will be counting milligrams (mg) of PHE in the foods served each day to meet the total prescribed.

If your child is hungry, you should select foods that are lower in PHE; and on the days your child is eating less food, you should select foods higher in PHE. For example, if your child is hungry, serve carrots, which are lower in PHE; and when you notice he/she is not hungry, serve green peas, which are higher in PHE.

Foods should not be served from the baby bottle. A spoon should be used for serving the foods. The medical food will continue to be your baby’s main source of protein, calories, and other nutrients needed for growth. Do not substitute fruit juice or foods for the formula. These items will not meet your baby’s nutritional needs.

When solid foods are started, you should make a paste of medical food and water to serve your baby. This paste helps your baby learn to eat the medical food in a cereal form from the spoon. When children are weaned from the bottle to the cup, they tend to take less medical food. The medical food paste provides another means of serving the prescribed number of scoops to your child. If you wait until the weaning period to begin the medical food paste, your child will not be interested in eating it in this form. The paste will help him/her to accept the smell of the medical food.

Children with PKU progress from baby foods to finger foods to table foods just as other children progress.

Weaning PKU infants are weaned from the baby bottle in the same manner as other infants. Offer your little one sips of medical food from a cup around age 5 to 8 months. Gradually decrease the number of bottles and increase the amount of medical food served from a cup. Weaning should be accomplished by 12 months of age. Some mothers use a training cup with a lid and spout or a 2 ounce plastic drinking glass.

When your child is in the process of changing from a bottle to the cup, he/she may not take all the prescribed medical food in liquid form. To keep the intake constant, serve medical food mixed as a paste from the spoon. If weaning is delayed, he/she may drink other liquids from a cup but refuse to drink the medical food.

To assist your child during the weaning period, make sure the family members are supportive when he/she is tired, troubled, or hungry.

Self-Feeding Parents often ask, “When should I let my child feed himself? What do I do about replacing the foods he spills?” Begin finger foods when he/she can grasp the foods between the thumb and forefinger. Suitable finger foods are fruit wedges, soft vegetables, and dry cereals such as Cheerios. Your nutritionist will provide finger food lists with PHE values.

Spoon-feeding skills are developed between the ages of 1 year and 18 months. The following steps may be followed during this development: 1) When your child shows interest in self-feeding, allow him/her to hold an extra spoon as you are spoon-feeding. This allows the child to practice holding the spoon. 2) Provide a small dish of food for the child to experiment with while you actually feed him/her. 3) When you have filled the spoon, let the child place it in his/her mouth. Later you may guide his/her hand from the dish to the mouth after the child fills the spoon.

Estimate the spilled foods and provide extra portions. PKU children need to develop independent feeding skills just as other children. Allowing your child this learning experience in a relaxed atmosphere is an important step in his/her growth toward independence.

Illness If your child becomes ill, contact their physician. If the illness changes your child’s eating pattern, contact the PKU Center. Each child handles illness differently. Your nutritionist will assist you in dietary modifications during this period.

Illness that causes your child to stop eating and drinking may lead to dehydration. His/her fluid intake is very important at this time. To increase the fluid intake, offer some of the following items: water, chipped ice, popsicles, decaffeinated beverages (carbonated drinks and tea with sugar), Jello®, Tang®, Kool-Aid® (without NutraSweet®), fruit juice, broth. Do not use products containing NutraSweet®. Items may be frozen to a semisolid state and then served with a spoon. As your child improves, offer medical food mixed at ½ the regular strength, crackers or toast, and return to the regular diet as tolerated. Call your nutritionist for detailed diet instructions during illness.

Suggestions for Feeding Problems

Children with PKU, like all children, eat less some days than others. Mothers sometimes feel very uneasy when this happens and may pass the feeling onto the children. This could create problems between parents and children. These tips may help you cope if your child has a feeding problem:

1. Remember your child’s appetite varies from day to day. Children have roller coaster appetites, up one day and down the next. Do not force-feed your child. Although it is best to keep the PHE intake constant, a day or two lower intake will not cause damage.
2. Offer less food than you expect your child to eat. He/she can ask for more but may feel overwhelmed by large portions.
3. Give your child some freedom of choice in the selection of foods served.
4. Treat your PKU child as you would your other children. Try to assume a relaxed manner, and the child will pick up your attitude and eat again as he/she becomes hungry.
5. Do not give large amounts of food from the PHE “free” lists that are high in calories, such as candy and soft drinks because they will cut your child’s appetite.
6. Serve the medical food first as this is the most important part of the diet.
7. Children learn to eat the foods that are served in the home. They pattern their habits after those around them. Plan to have fruits and vegetables available for snacks and meals.

Dental Health Some children with PKU have trouble with their teeth. Following these suggestions may help prevent problems:

1. Do not put your baby to bed with the bottle of medical food. Anything in the bottle, except water, will pool around the teeth and cause tooth decay. Putting the baby in bed with the bottle may also cause choking and dependency on the bottle as a mother substitute.
2. When your baby’s teeth start to erupt, clean them daily with a soft, damp cloth after each feeding. After 12 months, you may start to use an infant size toothbrush to clean their teeth. You do not need to use toothpaste at this age.
3. Encourage your baby to start drinking from a cup around 6 months of age. The medical food should be given from a cup or in paste form and no longer from the bottle by one year of age.
4. Ask your baby’s doctor about fluoride. A fluoride supplement may be recommended if your baby is not getting enough through the local drinking water. Fluoride is not added to medical food; however it contains several nutrients needed for strong teeth.
5. Limit the number of in-between meals snacks. Do not serve snacks that are high in sugar throughout the day. Frequent snacking on sugary foods may lead to tooth decay (cavities).
6. Clean your child’s teeth at least twice a day. Before bedtime, help your child brush and floss their teeth. If your child is old enough to spit out after brushing, then a toothpaste containing fluoride should be used.
7. Schedule regular dental check-ups for your child.

NutraSweet® Products containing Aspartame (called NutraSweet® or Equal®) should not be used by your PKU child. This low-calorie sweetener is made of aspartame which is 56% phenylalanine. To avoid serving your child aspartame (NutraSweet® or Equal®) read all labels. Aspartame is listed in the ingredients, and the statement PHENYLKETONURIC: CONTAINS PHENYLALANINE is printed on the label on some products. Aspartame is used in many items, including low-calorie soft drinks, dry mixes for beverages such as Kool-Aid®, gum, chewable vitamins, desserts. Read all labels and look for aspartame in the ingredient list. Ingredients change often, therefore, you need to read the labels each time you purchase foods.

Aspartame is also used in some medications. The warning label is not required on the medications, therefore, you must read the label and look for the word aspartame. Ask your pharmacist if the medication prescribed contains aspartame. If the medication contains aspartame ask your doctor to prescribe a different medication for your child.

Advice from the Child Psychologist

How to get your children to do what you want them to do...and like it! Many of the things we want our children to do are things they just don’t want to do, at least not with a smile on their faces. Yet there are also those things that teach them responsibility and positive health behaviors. A few “tricks-of-the-trade” are helpful to get your children to do what you want them to do, to like it, and to improve your relationship with them:

When your child is being good, focus attention on what they do that you like. “Oh look, you have measured out your cereal correctly,” is more effective than “You bother me always asking for extra foods.”

Don’t ask your child to decide something that he or she really has no choice in doing. “Shall we have your blood test Friday or Monday?” is more effective than “Do you want to have a blood test?”

The more specific you can be when you talk to your child, the more information you give him/her about what you like. “I am glad you drank your medical food so quickly before school this morning” is more helpful than “You were a good kid today.”

Most of all, let your children know that you love them. It’s their behavior in a particular situation that you do not like. All children need both love and firm limits.

Special Diets in the School Some parents want to tell the school personnel their child has PKU; other parents would rather not tell the school. The decision is left up to the parents. See Appendix D for ordering the booklet “A Teacher’s Guide to PKU.” The school should know that your child is on a special diet. You can decide how much information you wish the school to have about the reason for the diet.

Your responsibilities are to provide:

1. Information to the school about the special diet and lists of foods allowed and foods not allowed on the diet.
2. Substitute foods when necessary and label foods clearly.
3. Your child’s foods for the entire class for special occasions when possible.
4. Foods allowed on the diet for outings and special events.

Ask your child’s teacher to:

1. Inform all the staff of the special diet.
2. Help your child accept responsibilities for his/her own dietary restrictions.
3. Assist the child in building inner controls, which are essential in following a special diet in the classroom.
4. Explain to the other children that each child is different and has different dietary needs in order to help the other children accept the special diet.
5. In all other respects, treat the child the same as the other children.
6. Refrain from labeling the child as “sick” and do not keep him/her from entering into classroom activities or outings.
7. Inform you when there are activities or outings involving foods so you can send special foods for your child when necessary.

School Lunch Suggestions: In the early years, PKU children usually take their lunch to school. Moms and kids develop lists of lunch box treats. One parent reported that the other students were peeking over to see what this “lucky” kid brought today. Some children bring their medical food in a thermos. Others prefer to drink it before and after school. They may bring one of the following: apple juice, orange juice, pineapple juice, tea, lemonade, Hi C Drink®, Tang, Kool-Aid® (without NutraSweet® or Aspartame), or carbonated beverages (without NutraSweet® or Aspartame).

Once parents have mastered the art of making low-PHE bread, the world of sandwiches is opened for the PKU child. Sandwich fillings may include mushrooms, bean sprouts, avocado; shredded carrots, black olives, and mayonnaise; coleslaw; sliced cucumbers and tomatoes; bananas; pineapple; lettuce, tomatoes, and onion; and pickle relish. 

Soups include vegetarian vegetable, Cup-of-Soup, and homemade soup.

Salads include vegetable salad, fruit salad, and low-PHE pasta salads.

Desserts include fresh fruits; low PHE cookies, cupcakes, or cakes from special cookbooks; gum drops, hard candy, and jelly beans; Hunts Lemon Pudding Snack Pack®; and Comstock Pie Fillings®, Del-Monte Gel Snack Cups®.

Treats include Fruit Roll Ups, low protein rusk with jelly, Pepperidge Farm Goldfish crackers®, dried fruit, dried banana chips, pickles, and olives.

Use PHE food lists to determine the PHE content of lunch suggestions.

Older children may wish to select fruits and vegetables from the school lunch menu and report the types and amounts of foods when they return home. Contact your nutritionist for further assistance in menu planning for school meals.

Eye-Hand Coordination Activities Some PKU children have trouble writing in the lower grades. You may help your young child by encouraging him/her to work on crafts or play games that require eye-hand coordination. The following are examples of activities that require eye-hand coordination: stringing beads; stacking items; cutting; pasting; drawing with large crayons; completing puzzles, tracing; shaping and cutting Play Dough®; fastening buttons, snaps, and zippers; matching objects; and repeating patterns in pegboards.

Many of the games can be made at home, such as empty thread spools for stringing or old clothing with large buttons for dress-up. Blunt scissors, magazines, and other objects could be put to use for special projects. Your child will be more interested in the projects if an adult provides the time, space, and materials and also discusses the activity in progress.

Parents’ Letters

Feelings About PKU Diagnosis I would like to share my feelings on PKU. I am a 24 year-old new mother who went through the last year of nursing school pregnant. It was interesting, though, because we were studying maternal-child health. My husband of 2 years, James, is a 31 year-old pipe fitter. Carrie is our first child and has PKU. She is just 3 months old and seems to be doing fine on her special formula. The time is passing quickly, and the changes in her day by day mark that time.

When our pediatrician called to say that Carrie’s first PKU test was questionable, I was so upset I cried. I knew what PKU was and what it could do to a child’s development if untreated. She had her second blood test the next day, Carrie was one week old at this time. Dr. F. reminded us that even though the first test was positive, the second is usually negative. He is a kind man who loves children, and I feel he wanted to believe with us that Carrie did not have PKU. That Friday he called to reveal that Carrie’s second test was positive for PKU and told us to bring her in. I called James at work and managed to relay the news to him. He met us at the office, where we were given a class on the disorder.

I tried pumping my breast, but it did not work out. I was disappointed at first that I would not be able to breastfeed her. I felt she deserved to be breastfed, but I also knew that my breastmilk alone was not good for her. In keeping with that thought, it was easier to cope with weaning her to the bottle. What really helped that first day was the phone call from Lois, the Nutritionist, and Dr. Rouse, the Director of the PKU Center. Mr. and Mrs. Boyd brought over two cans of formula and their two children. Seeing little Ryan, who has PKU, run across the floor exclaiming, “Bird, bird!” (We have a parakeet) made us both feel so much better.

Every once in a while if I would get a little down, like watching a Dairy Queen commercial or some other food type advertisement on TV, I would remind myself it is only food. Eating is a very social function, something shared in all cultures. It’s nice that so many restaurants now have salad bars. I guess you have to remember that there are so many other things in life to do.

I also know Carrie is lucky she was diagnosed. I was thinking how I would have felt if she had not been diagnosed, and then I found out that she was not developing mentally or physically. Or how I would have felt if she had a disorder that could not have been treated. I would probably have felt far worse than I did when we found out she had PKU.

First Birthday Celebration

Annaliese thoroughly enjoyed her first birthday. She had three parties - one with each set of grandparents and one at home. I made a White Cake and a Tastes Like Devil’s Food Cake (from PKU cookbook). Joe and I like the White Cake with the Butter Frosting best. Annaliese tasted each and showed no preference for either.

We had a wonderful first year with Annaliese. She is a blessing to us. She plays with Barky, our dog, and Blite, our goat. Annaliese has inspired her 11 year-old brother, Erik. He is now talking about studying genetic engineering so that he can help develop cures for diseases like PKU.

We are beginning to enjoy Annaliese’s second year and watching her growth and development. We are very happy to have her as our daughter.

My first cousin, Cathy, was not diagnosed as having PKU until age 11 and is a resident in a state school. She has recently been placed on a medical food and low-protein diet, and her behavior has improved. I am sad that Cathy, age 37, was not helped at birth like Annaliese, but I am sure that my aunt is pleased with Cathy’s current progress.

Having grown up with Cathy, I knew what could be expected from PKU that was not treated; therefore, I was very upset when we were told Annaliese had PKU. As I watched her grow and develop normally, my fears disappeared.

Tips from Mother of 9 and 12 Year Old Daughters I have both girls involved with their PKU diet by allowing them to

1. Mix their own medical food. They learned to count by counting out scoops of medical food.
2. Help plan menus for a week. This allowed them to make choices of the foods served. They learned to count the total milligrams of PHE per day as they planned menus.
3. Write down the foods eaten on the diet record for blood tests. They became more aware of serving portions as they recorded items.
4. Assist in making special foods. Some dishes did not work out well, but most were successful. The special foods may taste strange to me but the girls were pleased. I let them be the judge of quality.
5. Prepare treats for special occasions. They filled heart-shaped boxes with special fudge* for Valentine’s Day, made spice cake* for birthdays and orange sherbet* for slumber party snacks.
6. Make recipe cards for a file of their favorite special foods. They created new recipes for such items as rice pizza and potato Easter eggs.
   
   See Appendix D to order PKU cookbooks.

Lists of Parents You May Contact

1. Gary and Karen Boyd, 3749 Castleview Circle, Corpus Christi, TX, 78410, Phone: 361-241-0163
2. Rob and Tawni Cramer, 4414 Cory Lane, Missouri City, TX 77459, 281-499-2866        cramert@houston.rr.com
3. Ramona Haner, 738 Meadowbrook, Corpus Christi, TX Phone: 361-992-6389
4. Joe and Jennifer Martinec, Route 2 Box 2578, Cedar Creek, TX 78612, Phone: 512-303-0299  jdmartinec@aol.com
5. Patti and Gary Miller, 4026 Cargill Drive, Round Rock, TX 78681, Phone: 512-671-7871  PJMDVM@yahoo.com
6. Rob and Janice Scharr, 22813 Willhanna, Katy, Texas 77449, Phone: 281-347-2419  katyhorn@evl.net

PKU Support Groups, Newsletters and Camps

1. National PKU News
   One year subscription $18.00 for US residents, $22 US funds for Canada, $28 US funds for foreign
   Virginia Schuett, MS, RD
   6869 Woodlawn Ave. NE #116
   Seattle, WA 98115
   Web site: http://www.pkunews.org
2. Arizona - Office of Nutrition Services
   Arizona Department of Health Services
   1740 West Adams, Room 208
   Phoenix, Arizona 85007
   (602) 542-2831
3. California - Children's PKU Network
   Via de la Valle Suite 116E
   Del Mar, CA 92014
   858-509-0767 Toll-Free: 800-377-6677
   FAX 858 509 0768
   Email:  pkunetwork@aol.com
4. Colorado - PATHWAYS Newsletter
   University of Colorado Health Science Center
   The Children's Hospital
   Inherited Metabolic Diseases Clinic
   1056 East 19th Ave. Box 153
   Denver, CO 80218
   (303) 861-6847
   1-800- 624-6553 ext.6847
5. Illinois - PKU Press Newsletter
   PKU PRESS Editor
   P.O. Box 102
   Palatine, IL 60078-0102
   PKU organization of IL voice mail (630) 415-2219
   Web site: http://www.PKUIL.org
6. Michigan - Association for Neuro-Metabolic Disorders Newsletter
   Pediatric Neurology Metabolic Clinic
   Box 0202/L3222 Women's Hospital
   University of Michigan Medical Center
   1500 East Medical Center Drive
   Ann Arbor, MI 48109-0202
   (734) 763-4697
7. Texas - PKU Connections Newsletter
   The newsletter can be viewed from http://www.dshs.state.tx.us/newborn/pku.shtm
8. Gulf Coast PKU Association
   Support group for Gulf Coast Area (Houston, Galveston, Austin)
   
   Contacts:
   Cindy Kirsch
   21711 Slippery Creek Lane
   Spring, Texas 77388
   ckirsch@ev1.net
   
   Cathi Perkins
   2910 Wyoming
   Dickinson, Texas 77539
   281-336-2301
   cperkins@spacenter.com
   
   Cathleen Connolly, RD, LD
   Hermann Children's Hospital
   713-704-2120
   cathleen_connolly@mhhs.org
9. University of Washington PKU Clinic - This site was developed by the University of Washington PKU clinic team, including a parent advisory group and clinic staff, to provide resources to families of children with PKU and professionals who work with children with PKU.
   http://depts.washington.edu/pku/
10. Online PKU Internet group
    Administrator: Linda Gilbert (parent).
    To Subscribe, send an email to  macpku@aol.com, requesting to be added to the mailing list with the following information: First name: Last name. Email address.
11. Camp Phever
    A camp for PKU children ages 6-16, began in 1997 to provide children and teens with PKU a typical summer camp experience while adhering to PKU diet prescriptions. The camp is held annually at “Camp for All” near Brenham, TX. Activities include swimming, canoeing, arts and crafts, challenge course, horseback riding, and fishing. For more information:
    Cathleen Connolly, RD, LD
    Hermann Children's Hospital
    713-704-2120
    cathleen_connolly@mhhs.org
12. Camp Phenomenal
    A camp for children with PKU and other metabolic disorders that require protein restriction (e.g. tyrosinemia, UCD's, etc). This family camp is for children and their parents, grandparents, brothers, sisters and cousins. It is held at Camp John Marc that is located in Meridian, Texas. Meridian is 85 miles southwest of Dallas in the Texas Hill Country. Families participate in a number of activities that mix fun and learning. Families are responsible for planning, preparing, and serving the low protein meals. Camp staff prepares a comparable meal for the rest of the campers.
    Contact:
    Genetics Department
    Children's Medical Center
    Dallas, TX
    214-456-2357

Appendix A

Low Protein Food Distributors

1. Dietary Specialties
   10 Leslie Court
   Whippany, NJ 07981
   Tel: 1-888-640-2800
   www.dietspec.com
2. Ener-G Foods
   5960 1st Ave. S.
   P.O. Box 24723 84488
   Seattle, WA 98124
   Tel. 1-800-331-5222
3. Med-Diet, Inc.
   3600 Holly Lane Suite 80
   Plymouth, MN 55447
   Tel. 1-800-633-3438
4. Scientific Hospital Supplies, Inc.
   PO Box 117
   Gaitherburg, MD 20884
   1-800-365-7354
   Loprofin
5. To obtain a gram scale for more accurate measurement of formula and food, contact:
   New England Connection for PKU and Allied Disorders
   John Sullivan
   New England Connection
   5 Jones Lane
   E. Sandwich, MA 02537
   Tel: 508-261-1291
   FAX: 508-888-2295
6. PKU Children's Network services available:
   1. Several models of digital scales are available to PKU families at cost, shipped throughout the US
   2. "Newborn Express Packs," includes coupons, reference materials and video on PKU with a simple explanation of PKU for families and friends
   3. Clearinghouse on PKU articles from 1988 forward
   4. Crisis intervention funds for families with financial needs related to PKU
   5. Scholarships: two awards of $1250 are given per year to students entering college and maintaining the diet.
   Childrens PKU Network
   3790 Via De La Valle, Suite 120
   Del Mar, Ca 92014
   1-800-377-6677
   858-509-0767
   FAX 858-509-0768

Appendix B

Directions for Diet Record Sheets Record your child’s intake for 3 days before the blood test. For example, if the blood is to be drawn on Thursday at 1:00 P.M., the diet records should be kept for Monday, Tuesday, Wednesday, and up until 1:00 P.M. on Thursday. It is not necessary to record the amount of water given to your baby as water does not contain phenylalanine.

Complete the top of page, record name, date of birth and measurements. Height and weight are critical information needed to plot your child’s growth pattern. Fill in the medical food mixture with ingredients, amounts and total volume. If the mixture changed, make a note of the changes. Record vitamins and minerals, if taken, with brand names and number of tablets taken per day. Answer questions in the health section. Illness may increase the blood PHE level. Record the date and time of the blood draw and last meal.

Diet Diary:

Write the date and time foods or liquids are taken and the amount eaten. Include the medical food taken each day. Use gram scales, standard measuring cups, spoons and a small ruler to measure the foods and liquids. Write liquids in ounces and solids in tablespoons, cups, grams or units, such as 1 small apple.

Measure dry cereal from the box; and cooked cereal after cooking. Measure cooked vegetables after cooking. List brand names of items eaten. Record foods in a notebook at home before mailing the form. If the diary is lost in the mail, the nutritionist will call you for the information.

You can draw your child’s blood or take him/her to the clinic for the blood draw. The blood specimen is sent to the Texas Department of State Health Services Laboratory. Blood collecting devices are available from the Texas Department of StateHealth Services. The specimen is analyzed without charge and the results are faxed to the PKU Treatment Center.

Mail the diet record sheet to the PKU Center the day of the blood test. This allows the nutritionist to calculate the diet and record the growth measurement by the time the blood level is reported by the Texas Department of State Health Services. Decisions for your child’s dietary management are based on his/her diet intake, growth rate, and blood level. Decisions cannot be made by the PKU Center staff on the blood test alone. Diet record sheets are vital in the treatment of your child.

Record dietary intake in a notebook at home before mailing the sheets. If the sheets are lost in the mail, the nutritionist will call you for the information.

After the PKU Center staff have evaluated the diet records, growth rate, and blood level, you will be given the results, and the diet changes, if needed, and will be informed as to the date of the next blood test. A follow-up letter stating the blood level and diet changes necessary is sent to you. A copy of this letter is sent to your child's physician and the nursing division of your health department, if appropriate. This furnishes all health care providers with current information regarding your child’s diet.

Appendix C

Suggestions for Flavoring Formula Infants are not aware of the difference in the smell and taste of the medical food and usually accept the formula readily. If parents or others around the infant shows signs of dislike for the smell or taste, the little one will quickly notice this attitude and may refuse to drink the medical food necessary for his/her normal growth and development.

The most direct approach to serving the medical food is to mix and serve it plain. Many children grow up drinking them without problems. Other children may need encouragement to take in the full amount prescribed per day. The following list is for those special cases:

1. Use caffeine-free carbonated beverages instead of water to mix Medical Food.
2. Add extracts (vanilla, almond, mint).
3. Add chocolate syrup or Chocolate Quik®.
4. Mix Medical Food with some of the fruit or fruit juice allowance. Fruit will puree in the blender as the formula is mixing.
5. Freeze flavored Medical Food into "popsicles" or "slush."
6. Mix enough water or fruit juice with dry Medical Food to make a paste of pudding-like consistency. Add sugar and spices.
7. Mix dry powder with Mocha Mix Non-Dairy Frozen Dessert®.
8. Prepare pudding (banana cream, butterscotch, lemon, tapioca, vanilla) with a non-dairy product (such as Rich's Richwhip Topping®), then add dry Medical Food powder to mixture.
9. Add dry powder to Sorbet® by Dole Company.

Use PHE food lists for PHE content of these flavorings.

Appendix D

Materials Available

I. BOOKLETS:

1. PKU and Teens: Planning Makes it Easier, (1987, 29 pages: single copy free). Designed to help teenagers with PKU learn more about PKU, its treatment, and application of dietary treatment needs to situations usually encountered by teenagers.
   Source: Illinois Dept. of Public Health, Div. of Family Health
   Genetic Diseases Program
   535 W. Jefferson St.
   Springfield, IL 62761
2. Monitoring Blood Levels at Home: For Infants, Children and Adults, with PKU and other Disorders, 1992, $1.00. Shows how to obtain blood samples using the Penlet and Guthrie card system.
   Source: Dr. Richard Allen
   Pediatric Neurology
   Metabolic Disease Clinic
   Box 0202/L3222 Women's Hospital
   University of Michigan Medical Center
   1500 East Medical Center Drive
   Ann Arbor, MI 48109-0202
   (734) 763-4697
3. Cristine M Trahms, MS, RD, FADA
   PKU/Biochemical Clinic, Box 357920
   University of Washington
   Seattle, WA 98195
   
   Educational materials for persons with PKU (children and adults)
   The University of Washington PKU Clinic web site:
   http://depts.washington.edu/pku/
4. A Teacher’s Guide to PKU, (1985) 12 pages. Free. Phenylketonuria (or PKU) is an inherited disorder of protein metabolism. Except for a special diet, the PKU child is just like the other children in your classroom. http://www.dshs.state.tx.us/newborn/teachpku.shtm
   Source: Texas Department of State Health Services - Newborn Screening
   1100 West 49th Street
   Austin, Texas 78756
   1-800-252-8023

II. VIDEOS:

1. Hidden from View: PKU in the Teen, (1985), 12 minutes VHS videotape ($10.00) + 20 page booklet, make check to Univ. Michigan, account U002431, A booklet and video for adolescents who are off diet explaining PKU and the importance of returning to diet.
   Source: Pediatric Neurology Metabolic Clinic
   Box 0202/L3222 Women's Hospital
   University of Michigan Medical Center
   1500 East Medical Center Drive
   Ann Arbor, MI 48109-0202
   (734) 763-4697

III. LOW PROTEIN FOOD LISTS AND COOKBOOKS:

1. Low Protein Food List for PKU, (1995) $35.00 - US residents, $37.00 in US funds for Canadians. Foreign $40 US funds, Washington state residents only, add $3.01 tax per book. Pay by check or Money Order (draw on US funds only) Make checks payable to Dietary Specialties, Inc. MasterCard and Visa accepted, send Exp. Date and signature.
   Source: Dietary Specialties, Inc.
   P.O. Box 227
   Rochester, NY 14601
   1-800-544-0099
2. Low Protein Bread Machine Baking for PKU, $15.00 US residents, $18 US funds Canadians, Foreign $21 US funds Washington State residents only add $1.29 tax per book. Make checks to Dietary Specialties. MasterCard and Visa accepted, send Exp. Date and signature.
   Source: Dietary Specialties, Inc.
   P.O. Box 227
   Rochester, NY 14601
   1-800-544-0099
3. Low Protein Cookery for PKU, 3rd edition, $21.95 US plus $3.50 shipping for first book, each additional book add $0.75. Tax for IL add $1.92, Canadians add GST $1.53 US funds. Pay by check or Money Order drawn on US funds only. Outside US add shipping for first book add $4.50 US funds, each additional add $1.00 US funds. Make check to Chicago Distribution Center. MasterCard, Visa accepted, send Card # and Exp. Date plus signature. Recipes appropriate for management of PKU. Includes PHE values per serving.
   Source: Chicago Distribution Center
   11030 S. Langley Ave.
   Chicago, IL 60628
   1-800-621-2736
4. PHE for THREE, (21.50) a reference guide featuring over 3200 foods. Includes an extensive fruit and vegetable choices, low protein specialty products and new ethnic foods. Crossed referenced to the 3rd edition of Low Protein Cookery and Low Protein Bread Machine Baking for PKU. The 5x9 inch book is perfect to carry along when out. Available in English and Spanish.
   Source: Nutritional Therapy/CDRC
   PO Box 574
   Portland, OR 97207

Appendix E

Glossary Amino Acids: Units which combine to form proteins.

Carrier: A person who has an altered PKU gene which may be passed on to children. This person does not have PKU.

Chromosome: A structure found in every cell which carries the genes.

Deciliter (dL): A metric measure of volume equal to 1/10 liter (approximately 3-1/3 fluid oz).

Enzyme: A chemical compound which helps one substance change into another. An enzyme helps PHE to change to tyrosine.

Essential Amino Acid: An amino acid which cannot be made by the body and must be provided in the diet.

Gene: Units of inheritance found in body cells.

Genetics: The branch of biology dealing with the process by which traits are passed from parents to children.

Guthrie Test: A blood test for newborns that measures PHE level.

Inherit: To receive from one's parents and other ancestors by genetic transmission.

Maternal PKU: A term used when referring to a pregnant woman who has PKU.

Micromoles mmol/L: A unit of measure used to express PHE concentration in blood.

Non-essential Amino Acid: An amino acid which can be made in the body if the enzyme system is working correctly.

NutraSweet®: A sugar substitute made of aspartame which contains 56% phenylalanine. This product should not be used by persons with PKU.

Phenylalanine (PHE): An essential amino acid which accumulates in PKU women off diet and damages unborn infants.

Phenylalanine Hydroxylase: The enzyme which changes phenylalanine into tyrosine. The enzyme does not work properly in persons with PKU.

Phenylketone: A breakdown product of PHE found in excessive amounts in the urine of untreated PKU persons.

Phenylketonuria (PKU): An inherited disorder in which the body cannot change PHE to tyrosine. The buildup of PHE in the blood can cause birth defects in infants born to women with PKU who are not on the PHE restricted diet.

Protein: Compounds made of amino acids that are essential for all living cells of the body.

Tyrosine: A non-essential amino acid which is made of PHE in the non PKU person. It becomes an essential amino acid in the person with PKU and must be supplied by the diet.

Appendix F
Diet Record

The Diet Record Form is also available in PDF. (PDF file 8K). 

 PDF files must be viewed/printed with Acrobat Reader.

Name
_____________________________________________________________________

Birthdate: _____/_____/_____ Height: _____ Feet _____ Inches or _____ Centimeters

Weight: __________Pounds or _____ Kilograms
Where Weighed _____ Home _____Doctor's Office _____ Other Specify __________

Write down how the Medical Food (Formula) was mixed:


INGREDIENT         AMOUNT
________________________________________________
________________________________________________
________________________________________________
TOTAL VOLUME ___________________________________

Did the ingredients and/or amounts change from day to day? Yes _____ No _____
If yes, indicate the changes.
________________________________________________
________________________________________________
________________________________________________
________________________________________________

Were any vitamins or mineral supplements taken? Yes _____ No _____
If yes: List brand name of each tablet                        Number of tablets taken

_______________________________________    Day 1   Day 2   Day 3
_______________________________________    _____   _____   _____
_______________________________________    _____   _____   _____
_______________________________________    _____   _____   _____

During the time of the diet record was your child ill? Yes _____ No _____ If yes: Did your child have a fever? Yes _____ No _____ Did your child vomit? Yes _____ No _____ Did your child have diarrhea? Yes _____ No _____

Comments: __________________________________________________

Blood Drawn: (Date) _____/_____/_____ (Time) _____ (Time of last meal) _____ AM/PM

Last Day of Diet Record: _____/_____/_____

Diet Diary

Please Note: External links to other sites are intended to be informational and do not have the endorsement of the Texas Department of State Health Services. These sites may also not be accessible to persons with disabilities.

External email links are provided to you as a courtesy. Please be advised that you are not emailing the Texas Department of State Health Services (DSHS) and DSHS policies do not apply should you choose to correspond.