von Gier·ke's disease (v n gîr k z, fôn)n. See type 1 glycogenosis. |
von Gierke's disease
[fôn gir′kəz]
Etymology: Edgar von Gierke, German pathologist, 1877-1945
a form of glycogen storage disease in which abnormally large amounts of glycogen are deposited in the liver and kidneys. The disorder is characterized by hypoglycemia, metabolic acidosis, dyslipidemia, and hepatomegaly. Biopsy of the affected organs reveals the absence of glucose-6-phosphatase, an enzyme necessary for glycogen metabolism. There is no effective treatment for the disorder. Medical efforts are directed at preventing hypoglycemia and acidosis. Also called glycogen storage disease, type Ia. See also glycogen storage disease.
von Gierke's disease
see glycogenosis type I.
Gierke's disease, von Gierke's disease
see glycogenosis type I.
von Gierke's disease
Glycogen storage disease–type Ia, glucose-6-phosphatase deficiency Pediatrics A rare AR metabolic disorder of glycogen storage, due to a defect in glucose-6-phosphatase, resulting in glycogen accumulation primarily
in liver and kidney Clinical Hypoglycemia, lipidemia, xanthoma formation, ↑ uric acid, ↑ lactic acid, liver adenomas, which may become malignant, hepatomegaly, bleeding diathesis, vasoconstrictive pulmonary HTN, convulsions, failure to
thrive, lordosis. See Glycogen storage disease.
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