Tyrosinemia

Tyrosinemia
  • Facts:
    Deficiency of fumarylacetoacetate hydrolase
  • History / PE:
    Fever, irritability
    Patients smell like boiled cabbage
    Hepatomegaly, jaundice
    Fanconi-like syndrome
    Hypoglycemia
  • Differential Diagnosis:
    Alkaptonuria (dark pee upon standing)
    Phenylketonuria (musty odor urine, fair skin, blue eyes)



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August 6th 2010