Alpha- Aminoadipic Acidemia (2-Oxoadipic aciduria)
Argininemia Arginase Deficiency (ARG)
Arginosuccinic Aciduria or Arginosuccinate Lyase Deficiency (ASA)
Aromatic L-amino Decarboxylase (AADC) Deficiency
Beta Ketothiolase: Mitochondrial Methylacetoacetyl-CoA Thiolase Deficiency
Biotinidase Deficiency
Carbamylphosphate Synthetase Deficiency
Canavan's Disease
Carnosinase Deficiency
Carnitine Palmitoyltransferase I Deficiency (CPTI)
Carnitine Palmitoyltransferase II Deficiency (CPTII)
Carnitine/Acylcarnitine Translocase Deficiency (CACT)
Carnitine Transport Defect or Carnitine Uptake Disorder (CTD or CUD)
Cerebral Folate Deficiency (CFD)
Citrullinemia Type I: Arginiosuccinate Synthetase Deficiency (CIT I)
Citrullinemia Type II: Citrin Deficiency
Dihydrolipoyl Dehydrogenase (E3) Deficiency
Dihydropteridine Reductase (DHPR) Deficiency
Dopamine Beta Hydroxylase (DBH) Deficiency
Dopa Responsive Dystonia
Ethylmalonic Encephalopathy (EMA ENC)
Fumarase Deficiency
Glutaric Aciduria Type I (GAI)
Glutaric Aciduria Type II
Guanosine-triphosphate Cyclohydroxylase (GTPCH) Deficiency
Hawkinsinuria
Histidinemia
Holocarboxylase Synthetase Deficiency: Multiple Carboxylase Deficiency (HCS or MCD)
Homocystinuria: Cystathionine Beta Synthease Deficiency (HCYS)
4-Hydroxybutyric Aciduria (4HBA)
2-Hydroxyglutaric Aciduria (does not distinguish D and L forms)
3-Hydroxy-3-methylglutaric aciduria: 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency
Hyper-β-alaninemia
Hyperammonemia, Hyperornithinemia, Homocitrullinuria (HHH)
Hyperhydroxyprolinemia
Hyperlysinemia
Hyperornithinemia
Hyperphenlalaninemia
Hyperprolinemia Type I
Hyperprolinemia Type II
Isobutyryl-CoA Dehydrogenase Deficiency: Isobutyrylglycinuria (IBCD or IBG)
Isovaleric Acidemia: Isovaleryl-CoA Dehydrogenase Deficiency (IVA)
Long-chain Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency
Malonic Aciduria: Malonyl-CoA Decarboxylase Deficiency (MAL)
Maple Syrup Urine Disease (MSUD)
Medium-chain acyl-CoA Dehydrogenase (MCAD) Deficiency
Methionine Adenosyl Transferase Deficiency (MAT): Hypermethioninemia
2-Methylbutyryl-CoA dehydrogenase Deficiency: 2-Methylbutyrylglycinuria (2-MBCD or 2-MBG)
3-Methylcrotonyl-CoA Carboxylase (3MCC) Deficiency
3-Methylglutaconic Aciduria Type I: 3-Methylglutaconyl-CoA Hydratase Deficiency (3-MGA type I)
Methylenetetrahydrofolate Reductase (MTHFR) Deficiency
Methylmalonic Acidemia: Methylmalonyl-CoA mutase Deficiency (MMA or MUT)
Mevalonate Kinase Deficiency (Intermittent Fever Syndrome)
Mevalonic Aciduria
Mitochondrial Trifunctional Protein Deficiency (TFP or MTP)
Nonketonic Hyperglycinemia (NKH)
Orotic Aciduria
5-Oxoprolinuria: Glutathione Synthetase Deficiency: 5-Oxoprolinase Deficiency (5OXOPRO)
Phenylketonuria (PKU) or Hyperphenylalaninemia
Propionic Acidemia: Propionyl-CoA Carboxylase Deficiency (PA or PROP)
6-Pyruvoyl-tetrahydropterin Synthase (PTPS) Deficiency
Sepiapterin Reductase (SR) Deficiency
Short-Chain acyl-CoA Dehydrogenase (SCAD) Deficiency
Succinic Semialdehyde Dehydrogenase (SSDH) Deficiency
Tyrosine Hydroxylase (TH) Deficiency
Tyrosinemia Type I (TYR I)
Tyrosinemia Type II (TYR II)
Tyrosinemia Type III (TYR III)
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Vitamin B-12 Disorders (Cobalamin Defects)