Amino Acid and Urea Cycle Disorders
Endocrine Disorders
Fatty Acid Oxidation Disorders
- Carnitine acylcarnitine translocase deficiency
- Carnitine palmitoyltransferase II deficiency
- Carnitine palmitoyltransferase deficiency 1a
- Carnitine uptake defect
- Long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
- Trifunctional protein deficiency.
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
Hemoglobinopathies
Organic Acid Disorders
- 3-Hydroxy-3-Methylglutaryl-CoA Lyase deficiency
- 3-Methylcrotonyl-CoA carboxylase deficiency
- 3-Methyglutaconic aciduria (3-MGA)
- Beta-ketothiolase deficiency
- Glutaric acidemia type I
- Glutaric acidemia type II
- Isovaleric acidemia
- Malonic acidemia
- Methylmalonic acidemias (cobalamin disorders, vitamin B12 disorders)
- Multiple carboxylase deficiency
- Propionic acidemia