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Glycogen storage disease due to liver glycogen phosphorylase deficiency
Disease definition
Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.
ORPHA:369
Classification level: Disorder- Synonym(s):
- 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
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: E74.0
- OMIM: 232700
- UMLS: C0017925
- MeSH: -
- GARD: 6529
- MedDRA: 10053240
Summary
Clinical description
The disease usually occurs in childhood and is characterized by hepatomegaly and growth delay. Hypoglycemic episodes are mild or absent, and hypertransaminasemia and hyperlipidemia are moderate and unconstant. Hepatomegaly usually improves with age and disappears entirely at puberty.
Etiology
Transmission is autosomal recessive and mutations in the PYGL gene (14q21-q22) have been identified in patients.
Diagnostic methods
Diagnosis is based on biochemical findings revealing excess glycogen and partial deficiency of total and active phosphorylase in liver biopsy.
Management and treatment
A diet with high carbohydrate intake and regular meals prevents hypoglycemia in children, but most patients require no specific treatment.
Prognosis
Prognosis is usually good.
Detailed information
Article for general public
Professionals
- Clinical genetics review
- English (2019)
Additional information