Diseases from newborn screening programs

Name short Name long
3-MCC 3-Methylcrotonyl-CoA carboxylase deficiency Show
ASA Argininosuccinic aciduria Show
BKT Beta-ketothiolase deficiency; Alpha-methylacetoacetic aciduria Show
CBL A,B CBL A,B, methylmalonic acidemia (cobalamin A and B) Show
CIT Citrullinemia Show
CUD Carnitine uptake defect Show
GA-1 Glutaric acidemia type I Show
GALT Galactosemia Show
HCY Homocystinuria, due to cystathionine beta-synthase deficiency Show
HMG 3-Hydroxy 3-methyl glutaric aciduria Show
IVA Isovaleric acidemia Show
LCHADD Long-chain L-3- hydroxyacyl-CoA dehydrogenase deficiency Show
MCADD Medium-chain acyl-CoA dehydrogenase deficiency Show
MCD Multiple carboxylase deficiency Show
MSUD Maple syrup urine disease Show
MUT Methylmalonyl-CoA mutase deficiency Show
PKU Phenylketonuria Show
PROP Propionic acidemia Show
TFP Trifunctional protein deficiency Show
TYR-I Tyrosinemia type I Show
VLCADD Very long-chain acyl-CoA dehydrogenase deficiency Show