P-184 THE CLINICAL, BIOCHEMICAL AND MOLECULAR FEATURES OF THREE IRANIAN PATIENTS WITH GLUTARYL—COA DEHYDROGENASE DEFICIENCY 2011
Background: GA1 is an autosomal recessive disease caused by the deficiency of mitochondrial glutaryl COA dehydrogenase. Patients usually have symptoms of hypotonia, seizure, loss of motor skills and progressive macrocephaly. Diagnosis is ascertained by the elevated C5DC, glutaric acid and hydroxy glutaric acid. Case Report: We...