Glycogen storage disease type 7
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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.
Codes
ICD10CM:
E74.09 – Other glycogen storage disease
SNOMEDCT:
89597008 – Glycogen storage disease, type VII
E74.09 – Other glycogen storage disease
SNOMEDCT:
89597008 – Glycogen storage disease, type VII
Differential Diagnosis & Pitfalls
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Last Updated:01/16/2022
Glycogen storage disease type 7