Contents

SynopsisCodesDifferential Diagnosis & PitfallsBest TestsReferences
Glycogen storage disease type 7
Other Resources UpToDate PubMed

Glycogen storage disease type 7

Contributors: Marilyn Augustine MD
Other Resources UpToDate PubMed

Synopsis

An autosomal recessive glycogen storage disease in which there is deficient expression of the muscle isoform of phosphofructokinase-1, resulting in abnormal deposition of glycogen in muscle tissue. These patients have fatigue, muscle cramps, and exercise intolerance, particularly after high-carbohydrate meals.

Codes

ICD10CM:
E74.09 – Other glycogen storage disease

SNOMEDCT:
89597008 – Glycogen storage disease, type VII

Differential Diagnosis & Pitfalls

To perform a comparison, select diagnoses from the classic differential

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Best Tests

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References

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Last Updated:01/16/2022
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Glycogen storage disease type 7
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A medical illustration showing key findings of Glycogen storage disease type 7 : Fatigue, Hypotonia, Muscle cramp, Creatine kinase elevated, Myalgia
Copyright © 2024 VisualDx®. All rights reserved.