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Myophosphorylase deficiency (glycogen storage disease V, McArdle disease)

J Lawrence Merritt II, MD
Section Editor
Sihoun Hahn, MD, PhD
Deputy Editor
Elizabeth TePas, MD, MS


Myophosphorylase (muscle phosphorylase) deficiency (MIM #232600), also known as McArdle disease, is the most common glycogen storage disease (GSD) affecting the muscle (figure 1) [1]. The GSDs are generally categorized by number according to the chronology of recognition of the responsible enzyme defect. As such, myophosphorylase deficiency is designated GSD V (table 1).

In myophosphorylase deficiency, glycogen is not properly broken down in muscle cells, interfering with their function. Patients usually present in adolescence or early adulthood with exercise intolerance, fatigue, myalgia, cramps, myoglobinuria, poor endurance, muscle swelling, and fixed weakness. A minimally invasive approach to the diagnosis of suspected myophosphorylase deficiency involves nonischemic forearm muscle exercise testing, although it is reasonable to perform genetic testing first in patients with clinical symptoms consistent with the diagnosis. Management includes avoidance of low-carbohydrate diets and low-to-moderate aerobic exercise.

Myophosphorylase deficiency (GSD V) is reviewed in detail here. Other GSDs and related disorders are reviewed separately. (See "Liver glycogen synthase deficiency (glycogen storage disease 0)" and "Glucose-6-phosphatase deficiency (glycogen storage disease I, von Gierke disease)" and "Lysosomal acid alpha-glucosidase deficiency (Pompe disease, glycogen storage disease II, acid maltase deficiency)" and "Lysosome-associated membrane protein 2 deficiency (glycogen storage disease IIb, Danon disease)" and "Glycogen debrancher deficiency (glycogen storage disease III)" and "Glycogen branching enzyme deficiency (glycogen storage disease IV, Andersen disease)" and "Liver phosphorylase deficiency (glycogen storage disease VI, Hers disease)" and "Phosphofructokinase deficiency (glycogen storage disease VII, Tarui disease)".)

A broader overview of GSD is also presented separately. (See "Overview of inherited disorders of glucose and glycogen metabolism".)


Myophosphorylase deficiency (McArdle disease, glycogen storage disease V [GSD V]) has an estimated prevalence of 1:167,000 in the Spanish population [2]. The prevalence in the Dallas-Fort Worth, Texas area was estimated to be 1:100,000 [3]. A positive family history for myophosphorylase deficiency is common and was seen in 53 percent of patients in one series [4].


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Literature review current through: Sep 2016. | This topic last updated: Nov 24, 2015.
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