Glycogen storage disease IX

MONDO:0700291

A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.

Also known as: GSD IX, GSD type 9, GSD type IX, GSD9, GSDIX, glycogen storage disease 9, glycogen storage disease IX, glycogen storage disease type 9

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

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Where it sits in the disease tree

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↑ Disorder of glycogen metabolism (69)

Sub-types of Glycogen storage disease IX

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

Trials to join now! 2 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 IX

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth