Von Giereke Disease : A Cause of Short Stature
نویسندگان
چکیده
Glycogen storage diseases are pathologies that affect the glycogen metabolism. Several types were identified. The most common one is glycogen storage disease type 1 (GSD I) also called Von Giereke disease. It results from deficiency of the enzyme glucose-6-phosphatase, and it is observed in one of 100,000 births. Clinically it includes hepatomegaly that give an appearance of abdominal distension contrasting with slender limbs, fasting intolerance, epistaxis and repeated infections. Growth retardation and delayed puberty can frequently be observed in this pathology. We report the cases of two sibling children admitted to ourdepartment for evaluation of short stature which proved to be secondary to.
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