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