Asunto(s)

Enfermedad del Almacenamiento de Glucógeno Tipo V , Humanos , Enfermedad del Almacenamiento de Glucógeno Tipo V/metabolismo , Ejercicio Físico , Aclimatación , Adaptación Fisiológica

RESUMEN

This disease was described by McArdle as an inherited autosomal recessive affection characterized by glycogen storage with normal chain in the skeletal muscles, due to absence of myophosphorylase activity. Under a clinical aspect, excessive fatigability, cramps and myoglobinuria appear following physical exercise. A case of this disease in a 36-year-old male patient is reported. Failure of elevation of venous blood lactate after physical effort under anaerobic conditions, as well as muscle histochemistry, made diagnosis confirmation possible. The authors comment on the differential diagnosis between McArdle's disease and the other causes of myoglobinuria, specially phosphofructokinase and carnitine-palmityl-transferase deficiency.

Asunto(s)

Enfermedad del Almacenamiento de Glucógeno Tipo V/diagnóstico , Enfermedad del Almacenamiento de Glucógeno/diagnóstico , Adulto , Diagnóstico Diferencial , Enfermedad del Almacenamiento de Glucógeno Tipo V/metabolismo , Enfermedad del Almacenamiento de Glucógeno Tipo V/patología , Humanos , Lactatos/sangre , Masculino , Músculos/metabolismo , Músculos/patología , Mioglobinuria/etiología