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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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