Small molecule disorders

• Amino acid disorders
  • maple syrup urine disease (MSUD)
  • cobalamin-defect (hyperhomocysteinemia, methylmalonic aciduria)
• Organic acid disorders (later onset seizures)
  • methylmalonic acid
  • propionic acid
  • isovaleric acid
• Hyperammonemia
  • organic acidopathies
  • carnitine deficiency
  • effect of seizures
  • valproic acid-induced
  • liver failure
• Sulfites (check urine S-sulfocysteine levels)
  • molybdenum cofactor deficiency
  • sulfide oxidase deficiency
  • xantene oxidase deficiency

Large molecule disorders

• Oligosaccharidoses, e.g., GM1-gangliosidosis

Others

• Peroxisomal disorders, e.g., Zellweger
• Menke's
• Rett's
• Neurotransmitter disorders