Galactosemia
Biotinidase
Profound biotinidase dificiency
Partial biotinidase deficiency
Amino Acidemias / Urea Cycle Disorders
PKU
Hyperphenylalanenemia
Argininemia
Arginosuccinic Acid Lyase Deficiency
Citrullinemia
Homocystinuria
Hypermethioninemia (MAT 1 deficiency)
Maple Syrup Urine Disease
Tyrosinemia, Type 1
Tyrosinemia, Type II and III
Organic Acidemias
Glutaric Acidemia, Type I
Isovaleric Acidemia
Methylmalonic Acidemia - mutase
Propionic Acidemia
3-Methylcrotonyl CoA Carboxylase Deficiency (3-MCC)
Holocarboxylase Deficiency (not yet reviewed)
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG-CoA) (not yet reviewed)
Beta-ketothiolase Deficiency (not yet reviewed)
3-Methylglutaconic Acidurias (not yet reviewed)
Fatty Acid Oxidation Disorders
Multiple acyl-CoA dehydorgenase (MADD) deficiency (Glutaric Acidemia, Type II)
Short chain acyl-CoA dehydrogenase (SCAD) deficiency
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) and trifunctional protien (TFP) deficiencies
Very long chain acyl-CoA dehydrogenase deficiency
Carnitine Transporter Deficiency
Carnitine-Acylcarnitine Translocase (CACT) Deficiency
Carnitine palmitoyltransferase I (CPT I) deficiency
Carnitine palmitoyltransferase II (CPT II) deficiency
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