Argininemia (ARG)

Argininosuccinic Aciduria (ASA Lyase)

Carbamoylphosphate Synthetase Deficiency (CPS)

Citrullinemia (CIT-I or ASA Synthetase)

Homocystinuria (HCY)

Hypermethioninemia (MET)

Hyperammonemia, Hyperornithinemia, Homocitrullinemia

Hyperornithinemia with Gyrate Atrophy (HOGA)

Maple Syrup Urine Disease (MSUD)

5-oxoprolinuria (5-OXO or Pyroglutamic Aciduria)

Phenylketonuria (PKU)

Tyrosinemia (TYR)

Liver Disease

Hyperalimentation

Hyperprolinemia 1 and 2

Pyruvate decarboxylase deficiency

Carnitine / Acylcarnitine Translocase Deficiency (CACT)

Carnitine Palmitoyl Transferase Deficiency Type I (CPT-I)

2,4-Dienoyl- CoA Reductase Deficiency (DE-RED)

Long Chain Hydroxy Acyl-CoA Dehydrogenase Deficiency

Medium Chain Acyl-CoA Dehydrogenase Deficiency

Multiple Acyl-CoA Dehydrogenase Deficiency (MADD or GA-II)

Neonatal Carnitine Palmitoyl Transferase Deficiency Type II

Short-chain Acyl-CoA Dehydrogenase Deficiency (SCAD)

Short chain Hydroxy Acyl-CoA Dehydrogenase Deficiency

Trifunctional Protein Deficiency (TFP)

Very Long Chain Acyl-CoA Dehydrogenase Deficiency

Isovaleric Acidemia (IVA)

Glutaric Acidemia-Type I (GA-I)

2-Methylbutyryl- CoA Dehydrogenase Deficiency (2MBG)

3-Methylcrotonyl- CoA Carboxylase Deficiency (3MCC)

3-Methylglutaconyl- CoA Hydratase Deficiency (3MGA)

Methylmalonic Acidemias (MMA)

Methymalonyl-CoA Mutase Deficiency (MUT)

Some Adenosylcobalamin Synthesis Defects

(CBL A,B/CBL C,D)

Maternal Vitamin B12 Deficiency

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (BKT)

Propionic Acidemia (PROP)

Malonic Aciduria (MAL)

Multiple CoA Carboxylase Deficiency (MCD)

Medium Chain Triglyceride (MCT) Oil Administration

Carnitine Uptake Deficiency (CUD)

G6PD Deficiency

Cystic Fibrosis

Endocrine Disorders

Biotinidase Deficiency

Galactosemia