SERAC1

At least 16 mutations in the SERAC1 gene have been found to cause MEGDEL syndrome. This condition is characterized by hearing loss, neurological problems, certain changes in the brain described as Leigh-like disease, and abnormally high amounts of an acid called 3-methylglutaconic acid in the urine. The SERAC1 gene mutations that cause this condition reduce the amount of SERAC1 protein that is produced or lead to production of a protein with little or no function. As a result, phosphatidylglycerol remodeling is impaired, which likely alters the composition of cardiolipin. Researchers speculate that the abnormal cardiolipin affects mitochondrial function, reducing cellular energy production and leading to the neurological and hearing problems characteristic of MEGDEL syndrome. It is unclear how SERAC1 gene mutations lead to abnormal release of 3-methylglutaconic acid in the urine.

MedlinePlus Genetics provides information about Leigh syndrome