Inborn Error Metabolism | Examples [10]. |
Urea cycle disorders | Ornithine transcarbamylase deficiency, citrullinemia, argininosuccinic aciduria, argininemia |
Organic acidemias | Propionic acidemia, methylmalonic aciduria, isovaleric acidemia, glutaric acidemia, maple syrup urine disease |
Fatty acid oxidation defects | Medium chain acyl-CoA dehydrogenase deficiency, carnitine palmitoyl transferase 1 deficiency, long chain hydroxyacyl-CoA dehydrogenase deficiency |
Amino acidopathies | Tyrosinemia, phenylketonuria, homocysteinuria |
Carbohydrate disorders | Galactosemia, fructosemia |
Mitochondrial disorders | MELAS, MERFF, pyruvate dehydrogenase deficiency |