Glycogen storage disease type I physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Clinical manifestations result, directly or indirectly, from
- inability to maintain an adequate blood glucose level during the post-absorptive hours of each day;
- organ changes due to glycogen accumulation;
- excessive lactic acid generation;
- damage to tissue from hyperuricemia;
- in GSD Ib, bleeding and infection risk from blood cell effects.
Physical Exmaination
- Protruding abdomen due to marked hepatomegaly (storage of glycogen and fat)
- Short stature
- Truncal obesity
- A doll-like facial appearance caused by adipose tissue deposition in the cheeks
- Wasted muscles