Mutations in SERAC1 cause MEGDEL

Posted by & filed under Part 12: LIPIDS.

Wortman et al. (Nature Genetics, volume 44 (7), 797-802, 2012) recently published their discovery that mutations in SERAC1, a gene responsible for phosphatidylglycerol remodeling, are causative for MEGDEL (3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome) syndrome. This disorder shows striking similarities to another disorder of phospholipid remodeling with 3-methylglutaconic aciduria and prominent mitochondrial dysfunction: Barth Syndrome.

 Hilary Vernon, MD PhD

 

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