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A Case of von Gierke Disease

Journal of the Korean Pediatric Society 1997;40(12):1756-1760.
Published online December 15, 1997.
A Case of von Gierke Disease
Young A Joe, Moon Young Song, Bin Cho, Soon Ju Lee, In Kyung Sung, Kyong Su Lee
Department of Pediatrics, Catholic University Medical College, Seoul, Korea
von Gierke씨병 1례
조영아, 송문영, 조빈, 이순주, 성인경, 이경수
가톨릭대학교 의과대학 소아과학교실
Abstract
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, and platelets dysfunction. We experienced a case of von Gierke disease in 6 month-old boy with doll face, hepatomegaly, fasting hypoglycemia, acidosis, anemia, hyperlipidemia, hyperuricemia, and acetonuria. Diagnosis was confirmed by light- and electron microscopic examination of liver biopsy specimen, which revealed hepatocytes filled with dense pools of glycogen and many lipid droplets. Cornstarch dietary therapy for him had favorable responses showing improvement of hypoglycemia, other metabolic derangements, and regression of hepatomegaly.
Key Words: von Gierke disease, Glucose-6-phosphatase


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