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Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

  • recurrent episodes of encephalopathy can lead to developmental delay and seizures
  • neutropaenia and thrombocytopaenia predispose to infection and bleeding
  • persistently raised levels of organic acids lead to:
    • pancreatitis
    • cardiomyopathy
    • stroke (Basal ganglia)
    • adults develop optic nerve atrophy


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