ContentsSynopsisCodesDifferential Diagnosis & PitfallsBest TestsReferences
Glycogen storage disease type 7
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Glycogen storage disease type 7

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Contributors: Marilyn Augustine MD
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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.

For more information, see OMIM.

Codes

ICD10CM:
E74.09 – Other glycogen storage disease

SNOMEDCT:
89597008 – Glycogen storage disease, type VII

Differential Diagnosis & Pitfalls

  • Other glycogen storage disease types (eg, types 1, 5)
  • Other causes of muscle weakness and myoglobinuria

Best Tests

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References

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Last Updated: 03/29/2017
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Glycogen storage disease type 7
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Glycogen storage disease type 7 : Fatigue, Hypotonia, Muscle cramp, Creatine kinase elevated, Myalgia
Copyright © 2019 VisualDx®. All rights reserved.