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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Where it sits in the disease tree

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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

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Glycogen storage disease IXb

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth