Differential Diagnosis

  • Organic acidemias: MSUD, propionic, isovaleric, methylmalonic, others
  • Urea acid cycle defects: carbamyl phosphate synthetase deficiency, OTC, citrullinemia, argininosuccinic aciduria
  • Carbohydrate disorders: galactosemia, hereditary fructose intolerance
  • Aminoacidopathies: homocystinuria, tyrosinemia, nonketotic hyperglycinemia
  • Endocrinopathies: “CAR, congenital diabetes”
  • OXPHOS disorders
  • Prader-Willi, Angelman syndrome, Rett syndrome