All issues > Volume 40(12); 1997

Case Report

J Korean Pediatr Soc. 1997;40(12):1756-1760. Published online December 15, 1997.

A Case of von Gierke Disease

Young A YA Joe¹, Moon Young MY Song¹, Bin B Cho¹, Soon Ju SJ Lee¹, In Kyung IK Sung¹, Kyong Su KS Lee¹

¹Department of Pediatrics, Catholic University Medical College, Seoul, Korea

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.

Keywords :von Gierke disease, Glucose-6-phosphatase