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GTR Home > Conditions/Phenotypes > Glycogen storage disease, type VI

Glycogen storage disease, type VI

Synonyms
GSD VI; Glycogen storage disease type 6; Hepatic glycogen phosphorylase deficiency; Hers disease; Phosphorylase deficiency glycogen-storage disease of liver
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Glycogen Storage Disease Type VI
Glycogen storage disease type VI (GSD VI) is a disorder of glycogenolysis caused by deficiency of hepatic glycogen phosphorylase. This critical enzyme catalyzes the rate-limiting step in glycogen degradation, and deficiency of the enzyme in the untreated child is characterized by hepatomegaly, poor growth, ketotic hypoglycemia, elevated hepatic transaminases, hyperlipidemia, and low prealbumin level. GSD VI is usually a relatively mild disorder that presents in infancy and childhood; rare cases of more severe disease manifesting with recurrent hypoglycemia and marked hepatomegaly have been described. More common complications in the setting of suboptimal metabolic control include short stature, delayed puberty, osteopenia, and osteoporosis. Hepatic fibrosis commonly develops in GSD VI, but cirrhosis and hypertrophic cardiomyopathy are rare. Clinical and biochemical abnormalities may decrease with age, but ketosis and hypoglycemia can continue to occur.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Emma Labrador
David A Weinstein
view full author information

Available tests

46 tests are in the database for this condition.

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Clinical tests (45 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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  • Also known as: GSD6, PYGL
    Summary: glycogen phosphorylase L

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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