Glycogen storage disease IXd

MONDO:0010362

A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.

Also known as: GSD IXd, GSD due to muscle phosphorylase kinase deficiency, GSD type 9D, GSD type IXd, GSD9D, PHKA1 glycogen storage disease, PHKA1-related glycogen storage disease type IX, glycogen storage disease caused by mutation in PHKA1

1 clinical trial for this condition and its sub-types, 0 tagged with Glycogen storage disease IXd itself.

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Where it sits in the disease tree

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↑ Disorder of glycogen metabolism (69)

Including sub-types (1) Tagged with Glycogen storage disease IXd (0)

Trials to join now! 1

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

Glycogen storage disease IXd

Where it sits in the disease tree

Can a national registry unlock the genetic secrets of glycogen storage diseases in indian children?