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Glycogen storage disease(GSD) type Ⅰis due to defect of glycose-6-phosphatase at the membrane of the endoplasmic reticulum in liver. Clinical presentations of GSD 1 are massive hepatomegaly without splenomegaly, failure to thrive, bleeding tendency, hypoglycemia, fasting ketosis and hyperlipidemia. The appearance of patient is short and fat with particularly fat cheeks. Mental development is usually normal. It was diagnosed by... |
