Professional - Disorder Factsheets

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

AMINO ACID DISORDERS

ASAL (argininosuccinyl-CoA lyase deficiency)
ASAS (citrullinemia/Argininosuccinate synthetase deficiency)
CBS (homocystinemia/cystathionine beta-synthase deficiency)
MSUD (Maple syrup urine disease)
PKU (phenylketonuria)
Tyrosinemia

FATTY ACID OXIDATION DISORDERS

Carnitine transporter deficiency
LCHADD/TFP (long chain 3-hydroxyacyl-CoA dehydrogenase deficiency/Trifunctional protein deficiency)
MCADD (medium chain acyl-CoA dehydrogenase deficiency)
VLCADD (very long chain acyl-CoA dehydrogenase deficiency)

ORGANIC ACID DISORDERS

BKD (beta-ketothiolase deficiency)
GA-1 (glutaric acidemia type-1)
HMGCoA (3-hydroxy-3-methylglutaryl-CoA lyase deficiency)
IVA (isovaleric acidemia)
MMA, Vit B12 responsive (methylmalonic acidemia, Vitamin B12 responsive)
MMA, Vit B12 non-responsive (methylmalonic acidemia, Vitamin B12 nonresponsive)">
Vitamin B12 metabolic defect with methylmalonic acidemia and homocystinuria
PA (propionic acidemia)
3MCC (3-methylcrotonyl-CoA carboxylase deficiency)

OTHER
Information is provided by GeneReviews

Biotinidase Deficiency (BIOT)

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