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Glycogen storage disease V

MONDO:0009293

Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.

Also known as: GSD due to muscle glycogen phosphorylase deficiency, GSD type 5, GSD type V, McArdle disease, Mcardle disease, PYGM glycogen storage disease, glycogen storage disease V, glycogen storage disease caused by mutation in PYGM

3 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Disorder of glycogen metabolism (14) Human disease (14) Carbohydrate metabolism disease (3) Disease of genetic or genomic mechanism (2) Inborn carbohydrate metabolic disorder (2) Inborn disorder of energy metabolism (1)
Trials to join now! 1 Completed 2
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  • Can a national registry unlock the genetic secrets of glycogen storage diseases in indian children?

    Knowledge-focused Recruiting now

    This 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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