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Start free with EleplanGlycogen storage disease due to liver and muscle phosphorylase kinase deficiency
ORPHA:79240Disease
Also called GSD due to liver and muscle phosphorylase kinase deficiency · GSD type 9B · GSD type IXb · Glycogen storage disease type 9B · Glycogen storage disease type IXb · Glycogenosis due to liver and muscle phosphorylase kinase deficiency · Glycogenosis type 9B · Glycogenosis type IXb
What it is
A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.
Key facts
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Very common80–99%
4Common30–79%
4Sometimes5–29%
24- Cirrhosis
- Delayed gross motor development
- Delayed speech and language development
- Dysmenorrhea
- Elevated circulating creatine kinase concentration
- Exercise intolerance
- Fatigue
- Hypotonia
and 16 more in this range
Rare1–4%
11- Anemia
- Diarrhea
- Hepatocellular adenoma
- Hepatocellular carcinoma
- Increased body weight
- Lactic acidosis
- Myoglobinuria
- Nausea
and 3 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.
Gene
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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