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Clinical features

Authoring team

Clinical features of the acute form include:

  • failure to thrive
  • irritability
  • hepatomegally
  • jaundice
  • progressive liver failure, with death in the first year of life

The chronic form has clinical features as follows:

  • features similar to the acute form, but starting later
  • developmental delay
  • Fanconi syndrome
  • polyneuropathy

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