| A Case of von Gierke Disease |
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Young A Joe, Moon Young Song, Bin Cho, Soon Ju Lee, In Kyung Sung, Kyong Su Lee |
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Department of Pediatrics, Catholic University Medical College, Seoul, Korea |
| von Gierke씨병 1례 |
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조영아, 송문영, 조빈, 이순주, 성인경, 이경수 |
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가톨릭대학교 의과대학 소아과학교실 |
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| Abstract |
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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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