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Clinical features

Authoring team

This condition is characterized by:

  • hepatomegaly but no splenomegaly
  • doll-like face
  • hypoglycaemia on fasting
  • hyperglycaemia after a meal
  • fits
  • low IQ

Other features include:

  • failure to thrive
  • lumbar lordosis
  • xanthomata (over buttocks and joints)
  • adiposity.

Reference:

  1. Parikh N. Glycogen Storage Disease Type I. Treasure Island (FL): StatPearls Publishing. 2025 Jan.

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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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