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Home > Mitochondrial Disease > Patient Evaluation for Professionals > Brief Differential Diagnosis
Brief 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

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