The information below is provided by the STAR-G (Screening, Technology, and Research in Genetics) Project.
ASAL (Argininosuccinyl-CoA lyase deficiency)
ASAS (Citrullinemia/Argininosuccinate acid synthetase deficiency)
CBS (Homocystinuria/Cystathionine beta-synthase deficiency)
MSUD (Maple syrup urine disease)
CUD (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)
BKD (Beta-ketothiolase deficiency)
GA1 (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)
The information below is provided by GeneReviews.
BIOT (Biotinidase Deficiency)
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