Acute recurrent myoglobinuria

Definition:

Acute recurrent myoglobinuria is caused by inborn errors of glycogenolysis, mitochondrial fatty acid beta-oxidation, and oxidative phosphorylation. It has been reported that mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

References:

[1]. Avraham Zeharia, et al. Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am J Hum Genet. 2008 Oct;83(4):489-94. [Content Brief]

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