P-203 Molecular analysis of Cypriot patients with glutaric aciduria type I: Identification of two novel mutations 2014
Background: Glutaric aciduria type I (GAI) is an autosomal recessive metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase, an enzyme involved in the catabolic pathway of lysine, hydroxylysine and tryptophan. More than 100 disease causing mutations have been identified so far and certain mutations...