Glycogen storage disease type I physical examination: Difference between revisions
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==Overview== | ==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== | ==Physical Exmaination== |
Revision as of 14:25, 1 November 2017
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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
- Rounded doll-like face
- Wasted muscles