Glycogen storage disorder due to hepatic glycogen synthase deficiency
MONDO:0009414Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.
Also known as: GSD due to hepatic glycogen synthase deficiency, GSD type 0a, glycogen storage disease due to glycogen synthase deficiency of liver, glycogen storage disease due to hepatic glycogen synthase deficiency, glycogen storage disease due to liver glycogen synthase deficiency, glycogen storage disease type 0a, glycogen synthase deficiency, glycogenosis type 0a
2 clinical trials for this condition and its sub-types.
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Can a national registry unlock the genetic secrets of glycogen storage diseases in indian children?
Knowledge-focused Recruiting nowThis study aims to create a nationwide registry of Indian children with hepatic glycogen storage diseases (GSDs), a group of inherited metabolic disorders affecting the liver and muscles. By collecting genetic, clinical, and outcome data from 250 children, researchers hope to map…
Sponsor: Institute of Liver and Biliary Sciences, India • Aim: Knowledge-focused
Last updated Aug 07, 2026 00:00 UTC
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Scientists launch Largest-Ever study of Ultra-Rare GSDs
Knowledge-focused Recruiting nowThis study tracks 200 people with ultra-rare glycogen storage diseases (GSDs) like types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, and Danon disease. Researchers will collect medical records and other data to see how these conditions progress over time. No treatments or dru…
Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:08 UTC