Glycogen storage disease IXb

MONDO:0009868

A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation.

Also known as: GSD IXb, GSD due to liver and muscle phosphorylase kinase deficiency, GSD type 9B, GSD type IXb, GSD9B, PHKB glycogen storage disease, PHKB-related glycogen storage disease type IX, glycogen storage disease 9B

3 clinical trials for this condition and its sub-types, 2 tagged with Glycogen storage disease IXb itself.

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↑ Glycogen storage disease IX (3)

Including sub-types (3) Tagged with Glycogen storage disease IXb (2)

Trials to join now! 1 Not yet finished but already full! 1

Researchers launch Largest-Ever natural history study for rare GSD types

Knowledge-focused Recruiting now

This study is collecting medical information from 400 people with Glycogen Storage Disease Type VI or Type IX to learn how these rare liver conditions progress over time. Researchers will review patient records from clinic visits to track disease changes, genetic types, and lab r…

Sponsor: Duke University • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:29 UTC

Glycogen storage disease IXb

Where it sits in the disease tree

Researchers launch Largest-Ever natural history study for rare GSD types