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GTR Home > Conditions/Phenotypes > Myoglobinuria, acute recurrent, autosomal recessive

Myoglobinuria, acute recurrent, autosomal recessive

Synonyms
MYOGLOBINURIA, FAMILIAL PAROXYSMAL PARALYTIC; Myoglobinuria, recurrent, autosomal recessive; RHABDOMYOLYSIS, ACUTE RECURRENT

Summary

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 (Ramesh and Gardner-Medwin, 1992). See 160010 for discussion of a possible autosomal dominant form of myoglobinuria. Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (145600), an autosomal dominant disorder. [from OMIM]

Available tests

42 tests are in the database for this condition.

Clinical tests (42 available)

Molecular Genetics Tests

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Clinical features

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Imported from Human Phenotype Ontology (HPO)

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