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.
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)