Disorder Fact Sheets

Biotinidase Deficiency
Congenital Adrenal Hyperplasia (CAH)
Congenital Hypothyroidism (CH)
Cystic Fibrosis (CF)
Galactosemia

Amino Acid Disorders

Argininemia (ARG, arginase deficiency)
Argininosuccinic Acidemia (ASA, argininosuccinase)
Citrullinemia type I (CIT-I, argininosuccinate synthetase)
Citrullinemia type II (CIT-II, citrin deficiency)
Defects of biopterin cofactor biosynthesis (BIOPT-BS)
Defects of biopterin cofactor regeneration (BIOPT-RG)
Homocystinuria (HCY, cystathionine beta synthase)
Hyperphenylalaninemia (H-PHE)
Hypermethioninemia (MET)
Maple Syrup Urine Disease (MSUD, branched-chain ketoacid dehydrogenase)
Phenyleketonuria (PKU, phenylalanine hydroxylase)
Tyrosinemia type I (TYR-1, fumarylacetoacetate hydrolase)*
Tyrosinemia type II (TYR-II, tyrosine aminotransferase)
Tyrosinemia type III (TYR-III, hydroxyphenylpyruvate dioxygenase)

Fatty Acid Oxidation Disorders

Carnitine/acylcarnitine translocase defect (CACT)
Carnitine Uptake Deficiency (CUD, carnitine transport defect)*
Carnitine palmitoyl transferase deficiency I (CPT-1a)
Carnitine palmitoyl transferase deficiency II (CPT-II)
Dienoyl-CoA reductase deficiency (DE-RED)
Glutaric acidemia type II (GA-II, multiple acyl-CoA dehydrogenase deficiency)
Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT)
Medium/Short chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (M/SCHAD)
Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
Trifunctional Protein Deficiency (TFP)
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Organic Acid Disorders

2-Methyl-3-hydroxybutyric aciduria (2M3HBA)
2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG, SBCAD)
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG)
3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
3-Methylglutaconic aciduria (3MGA, Type I hydratase deficiency)
Beta Ketothiolase (BKT, mitrochondrial acetoacetyl-CoA thiolase, short-chain ketoacylthiolase)
Glutaric acidemia, type I (GA-1, glutaryl-CoA dehydrogenase)
Isobutyryl-CoA dehydrogenase deficiency (IBG)
Isovaleric acidemia (IVA, Isovaleryl-CoA dehydrogenase)
Malonic acidemia (MAL, malonyl-CoA decarboxylase)
Methylmalonic Acidemia (Cbl A,B; vitamin B12 disorders)
Methylmalonic acidemia (CBL C,D)
Methylmalonic Acidemia (MUT, methylmalonyl CoA mutase)
Multiple Carboxylyse Deficiency (MCD, holocarboxylase synthetase)
Propionic acidemia (PROP, propionyl-CoA carboxylase)

 

* There is a lower probability of detection of this disorder during the immediate newborn period.