Myoglobinuria, acute recurrent, autosomal recessive

Common Name(s)

Myoglobinuria, acute recurrent, autosomal recessive

Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome ({232600}), carnitine palmitoyltransferase deficiency (see {255110}), and the Creteil variety of phosphoglycerate kinase deficiency ({311800}), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. ({6:Ramesh and Gardner-Medwin, 1992}). See {160010} for discussion of a possible autosomal dominant form of myglobinuria. Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia ({145600}), an autosomal dominant disorder.
 

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Scientific Literature

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