McArdle disease: a clinical review.

Title: Genes and exercise intolerance: Insights from McArdle disease

32 McArdle disease (glycogen storage disease type V) is caused by inherited deficiency of 33 a key enzyme in muscle metabolism, the skeletal-muscle specific isoform of glycogen 34 phosphorylase, ‘myophosphorylase’, which is encoded by the PYGM gene. Here we 35 review the main pathophysiological, genotypic and phenotypic features of McArdle 36 disease and their interactions. To date, moderate-in...

Genes and exercise intolerance: insights from McArdle disease.

McArdle disease (glycogen storage disease type V) is caused by inherited deficiency of a key enzyme in muscle metabolism, the skeletal muscle-specific isoform of glycogen phosphorylase, "myophosphorylase," which is encoded by the PYGM gene. Here we review the main pathophysiological, genotypic, and phenotypic features of McArdle disease and their interactions. To date, moderate-intensity exerci...

McArdle disease: a case report and review

McArdle disease (glycogen storage disease type V) is a pure myopathy caused by an inherited deficit of myophosphorylase. The disease exhibits clinical heterogeneity, but patients typically experience exercise intolerance, acute crises of early fatigue, and contractures, sometimes with rhabdomyolysis and myoglobinuria, triggered by static muscle contractions or dynamic exercise. We present the c...

Author's response to reviews Title: Association between bilirubin and cardiovascular disease risk factors: Using Mendelian randomization to assess causal inference Authors:

Exercise and Preexercise Nutrition as Treatment for McArdle Disease.

McArdle disease is due to an inborn defect in the muscle isoform of glycogen phosphorylase (or "myophosphorylase"), the enzyme that catalyzes the first step of glycogenolysis. This condition is still not fully understood, and although advances in research would help patients immeasurably, these would also enhance our understanding of exercise metabolism. It has been 10 yr since the first publis...

Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency.

BACKGROUND Muscle phosphoglycerate mutase deficiency (PGAMD) is a rare, recessively inherited metabolic myopathy that affects one of the last steps of glycolysis. Clinically, PGAMD resembles muscle phosphorylase deficiency (McArdle disease) and phosphofructokinase deficiency (PFKD). However, it is unknown whether PGAMD is associated with a second-wind phenomenon during exercise, as in McArdle d...