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Connect & DownloadRecurrent 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. The recurrent episodes of myoglobinuria do not have any relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. Differential diagnosis include the exercise-induced rhabdomyolyses such as McArdle syndrome (232600), carnitine palmitoyltransferase deficiency (see 255110), and the Creteil variety of phosphoglycerate kinase deficiency (311800). Inheritance is autosomal recessive. It is caused by homozygous or compound heterozygous mutation in the LPIN1 gene (605518) on chromosome 2p25. [OMIM]
Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
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