A Case of von Gierke Disease
Journal of the Korean Pediatric Society
;
: 1756-1756, 1997.
Article
in Korean
| WPRIM
| ID: wpr-138871
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Starch
/
Acidosis
/
Biopsy
/
Glycogen Storage Disease Type I
/
Glucose-6-Phosphatase
/
Hepatocytes
/
Hyperuricemia
/
Diagnosis
/
Erythrocytes
/
Glycogen
Type of study:
Diagnostic study
Limits:
Humans
/
Infant
/
Male
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
1997
Type:
Article
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