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