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Start free with EleplanGlycogen storage disease due to liver phosphorylase kinase deficiency
ORPHA:264580Disease
Also called GSD due to liver phosphorylase kinase deficiency · GSD type 9A · GSD type 9C · GSD type IXa · GSD type IXc · Glycogen storage disease type 9A · Glycogen storage disease type 9C · Glycogen storage disease type IXa · Glycogen storage disease type IXc · Glycogenosis due to liver phosphorylase kinase deficiency · Glycogenosis type 9A · Glycogenosis type 9C · Glycogenosis type IXa · Glycogenosis type IXc · XLG
What it is
Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth, Europe)
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive, X-linked recessive
- Classified as
- Disease
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.
Signs and symptoms
Very common80–99%
4Common30–79%
8Sometimes5–29%
23- Cholestasis
- Delayed gross motor development
- Delayed puberty
- Dysmenorrhea
- Elevated circulating creatine kinase concentration
- Exercise intolerance
- Failure to thrive
- Fatigue
and 15 more in this range
Rare1–4%
16- Anemia
- Cardiomyopathy
- Cirrhosis
- Delayed speech and language development
- Diarrhea
- Esophageal varix
- Hepatocellular adenoma
- Hypotonia
and 8 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
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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