Glycogen storage disease type 0 has defect in glycogen synthase
Specialty
Medical genetics
Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified as a glycogen storage disease because it is another defect of glycogen storage and can cause similar problems. There are two isoforms (types) of glycogen synthase enzyme; GSY1 in muscle and GSY2 in liver, each with a corresponding form of the disease.[1] Mutations in the liver isoform (GSY2), causes fasting hypoglycemia, high blood ketones, increased free fatty acids and low levels of alanine and lactate. Conversely, feeding in these patients results in hyperglycemia and hyperlactatemia.
^Orho M, Bosshard NU, Buist NR, et al. (August 1998). "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0". J. Clin. Invest. 102 (3): 507–15. doi:10.1172/JCI2890. PMC 508911. PMID 9691087.
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