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Start free with EleplanGlycogen storage disease due to liver glycogen phosphorylase deficiency
ORPHA:369Disease
Also called GSD due to liver glycogen phosphorylase deficiency · GSD type 6 · GSD type VI · Glycogen storage disease type 6 · Glycogen storage disease type VI · Glycogenosis due to liver glycogen phosphorylase deficiency · Glycogenosis type 6 · Glycogenosis type VI · Hepatic glycogen phosphorylase deficiency · Hepatic phosphorylase deficiency · Hers disease · Liver glycogen phosphorylase deficiency
What it is
A rare form of glycogen storage disease (GSD) characterized by a deficiency of hepatic glycogen phosphorylase leading to impaired glycogenolysis, and characterized by hepatomegaly and growth delay in childhood.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth, Israel)
- Age of onset
- Childhood
- Inheritance
- Autosomal 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
Common30–79%
8Sometimes5–29%
12- Abdominal distention
- Exercise-induced muscle cramps
- Hepatic fibrosis
- Hyperlipidemia
- Hypotonia
- Intermittent lactic acidemia
- Irritability
- Motor delay
and 4 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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