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Start free with EleplanGlycogen storage disease due to phosphorylase kinase deficiency
ORPHA:370Clinical group
Also called GSD due to phosphorylase kinase deficiency · GSD type 9 · GSD type IX · Glycogen storage disease due to PhK deficiency · Glycogen storage disease type 9 · Glycogen storage disease type IX · Glycogenosis due to phosphorylase kinase deficiency · Glycogenosis type 9 · Glycogenosis type IX · Gycogenosis due to PhK deficiency
What it is
Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is 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.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth, Europe)
- Age of onset
- All ages
- Inheritance
- Autosomal recessive, X-linked recessive
- Classified as
- Clinical group
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Genes reported in subtypes
Orphanet records these genes on 3 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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