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

1. inability to maintain an adequate blood glucose level during the post-absorptive hours of each day;
2. organ changes due to glycogen accumulation;
3. excessive lactic acid generation;
4. damage to tissue from hyperuricemia;
5. 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