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GTR Home > Conditions/Phenotypes > Glycogen storage disease IXc

Glycogen storage disease IXc

Synonyms
GSD IXc; PHKG2-Related Phosphorylase Kinase Deficiency

Summary

Excerpted from the GeneReview: Phosphorylase Kinase Deficiency
Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. The two types of PhK deficiency are liver PhK deficiency (characterized by early childhood onset of hepatomegaly and growth restriction, and often, but not always, fasting ketosis and hypoglycemia) and muscle PhK deficiency, which is considerably rarer (characterized by any of the following: exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness). While symptoms and biochemical abnormalities of liver PhK deficiency were thought to improve with age, it is becoming evident that affected individuals need to be monitored for long-term complications such as liver fibrosis and cirrhosis.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Mrudu Herbert
Jennifer L Goldstein
Catherine Rehder
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Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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  • Also known as: GSD9C, PHKG2
    Summary: phosphorylase kinase catalytic subunit gamma 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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