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Glycogen storage disease due to liver phosphorylase kinase deficiency

MONDO:0020693

A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.

3 clinical trials for this condition and its sub-types.

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Sub-types

Glycogen storage disease IXa1 (2) Glycogen storage disease IXc (2)

Broader categories

Disease (717) Liver disorder (316) Metabolic disease (241) Hereditary disease (188) Digestive system disorder (166) Endocrine system disorder (78) Inborn errors of metabolism (47) Disorder of glycogen metabolism (15) Human disease (15) Hepatobiliary disorder (10)

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