The hallmarks of type Ia glycogen storage disease are all of the following except
Glycogen Storage Disease Type-I 1. It is also called Von Gierke&;s Disease. Most common type of glycogen storage disease is type I. 2.Incidence is 1 in 100,000 live bihs. Salient features of the disease are: 3.Glucose-6-phosphatase is deficient. 4.Fasting hypoglycemia that does not respond to stimulation by adrenaline. The glucose cannot be released from liver during overnight fasting. 5.Hyperlipidemia, lactic acidosis, and ketosis. 6.Glucose-6-phosphate is accumulated, so it is channeled to HMP shunt pathway producing more ribose and more nucleotides. 7. Purines are then catabolized to uric acid, leading to hyperuricemia 8. Glycogen gets deposited in liver. Massive liver enlargement may lead to cirrhosis. 9. Children usually die in early childhood. 10. Treatment is to give small quantity of food at frequent intervals.Ref: DM Vasudevan, 7th edition, page no: 128
Hypoglycemia
Metabolic alkalosis
Hyperuricemia
Hyperlipidemia
Metabolism of carbohydrate