Glycogen storage disease IXa2

MONDO:0100439

Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.

Also known as: GSD IXa2, GSD9A2, liver glycogenosis, X-linked, type 2

3 clinical trials for this condition and its sub-types, 2 tagged with Glycogen storage disease IXa2 itself.

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Where it sits in the disease tree

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Including sub-types (3) Tagged with Glycogen storage disease IXa2 (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 IXa2

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth