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Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients
Rebecca K Halligan1, Michael T Sanders2, Arthavan Selvanathan3
1Department of Paediatric Inherited Metabolic Diseases, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Journal of Inherited Metabolic Disease
|July 24, 2026
Summary
This study on Glycogen Storage Disease type IX (GSD IX) in the UK found varied disease severity and outcomes. GSD IXγ2 showed a more severe course, suggesting it as a target for new therapies.
Area of Science:
- Metabolic disorders
- Genetics
- Pediatric hepatology
Background:
- Glycogen Storage Disease type IX (GSD IX) results from phosphorylase kinase deficiency.
- It is a common form of GSD with diverse clinical presentations.
Purpose of the Study:
- To describe the natural history and long-term outcomes of GSD IX in a UK cohort.
- To identify differences in disease course among GSD IX subtypes.
- To highlight GSD IXγ2 as a potential target for novel therapies.
Main Methods:
- Retrospective, observational cohort study of 89 individuals with GSD IX in the UK.
- Analysis of clinical data, including age at presentation, symptoms, and treatment.
- Genetic analysis identifying novel alleles in PHKA2, PHKB, and PHKG2.
Main Results:
- Median age at presentation was 2.5 years; common symptoms included hepatomegaly and ketotic hypoglycemia.
- Height Z-scores improved significantly during childhood.
- Individuals with GSD IXγ2 exhibited more severe disease and worse biochemistry at presentation.
Conclusions:
- GSD IX presents with a spectrum of severity, with some patients requiring intensive management and others minimal intervention.
- No adenomas or hepatocellular carcinomas were observed.
- GSD IXγ2 warrants further investigation for targeted therapeutic development.
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