RESUMO

Myophosphorylase deficiency (McArdle disease) is characterized by exercise intolerance that usually starts in childhood. Severe cramps and myoglobinuria are rarely problems in children. We describe an 8-year-old boy with exercise-induced myoglobinuria; he was homozygous for the mutation most commonly encountered in patients with typical McArdle disease.

Assuntos

Mioglobinúria/etiologia , Fosforilases/deficiência , Criança , Tolerância ao Exercício , Homozigoto , Humanos , Masculino , Doenças Musculares/etiologia , Mutação/genética , Dor/etiologia , Fosforilases/genética , Esforço Físico/fisiologia