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Case Report
A Case of von Gierke Disease
Young A Joe, Moon Young Song, Bin Cho, Soon Ju Lee, In Kyung Sung, Kyong Su Lee
Clin Exp Pediatr. 1997;40(12):1756-1760.   Published online December 15, 1997
von Gierke disease(type Ia glycogen storage disease) is an inherited disease associated with accumulation of glycogen in the liver, kidney, intestine and erythrocytes due to the defect of glucose-6-phosphatase activity. Hepatomegaly, doll face, anemia, bleeding tendency and increased susceptability to infection are common features observed during infancy. Hypoglycemia especially fasting hypoglycemia is typical metabolic derangement in this disease, followed by metabolic acidosis, lactic acidemia, hyperlipidemia, hyperuricemia,...


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