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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,... |
