Parent - Disorder Factsheets

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Information is provided by STAR-G (Screening, Technology, and Research in Genetics)

AMINO ACID DISORDERS  

Argininosuccinic academia (ASA) or
ASAL (argininosuccinyl-CoA lyase deficiency)
Citrullinemia (CIT) or
ASAS (citrullinemia/Argininosuccinate synthetase deficiency)
Homocystinuria (HCY) or
CBS (homocystinemia/cystathionine beta-synthase deficiency)

Maple Syrup Urine Disease (MSUD)
Phenylketonuria (PKU)
Tyrosinemia (TYR1)

FATTY ACID OXIDATION DISORDERS  

Carnitine uptake deficiency (CUD) or
Carnitine transport deficiency (CTD)

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Medium chain acyl-CoA dehydrogenase deficiency (MCADD)
Trifunctional protein deficiency (TFP deficiency)
Very long chain acyl-CoA dehydrogenase deficiency (VLCADD)

ORGANIC ACID DISORDERS

Beta ketothiolase deficiency (BKD)
Glutaric acidemia, type 1 (GA1)

Multiple carboxylase deficiency (MCD) or
HCSD (holocarboxylase synthetase deficiency)

3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)
Isovaleric Acidemia (IVA)
Methylmalonic Acidemia (MMA)
Propionic Acidemia (PROP or PA)
3-methylcrotonyl CoA carboxylase deficiency (3MCC deficiency)

OTHER
Information is provided byGeneReviews

Biotinidase Deficiency (BIOT)


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Last updated November 07, 2012