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)