[McArdle's disease. Apropos of a case].
McArdle's disease (glycogenosis type V) is a metabolic disorder of hydrocarbons, inherited with autosomic recessive pattern. Biochemically is defined by a myophosphorylase deficiency; clinically it is characterized by exercise intolerance, due to the impossibility of providing energetic substrate to the muscle, myalgias and stiffness. We present a case report of a patient with McArdle's disease and we comment the diagnostic procedures and current therapeutic options.
Departamento de Medicina Interna, Facultad de Medicina, Universidad de Navarra.
J R
JR
Yuste
O
O
Beloqui
A
A
De la Peña
R
R
Rodríguez-Rosado
J I
JI
Monreal
F
F
Prósper
J
J
Prieto
D000328:Adult; D003402:Creatine Kinase / Q000097:blood; D004044:Dietary Proteins / Q000627:therapeutic use; D006003:Glycogen / Q000032:analysis; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics / Q000378:metabolism; D006019:Glycolysis; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology; D009212:Myoglobinuria / Q000209:etiology; D006005:Phosphorylases / Q000172:deficiency*; D005082:Physical Exertion
D004044:Dietary Proteins; D006003:Glycogen; D006005:Phosphorylases; D003402:Creatine Kinase
Enfermedad de McArdle. A propósito de un caso.