Glutarik Asidüri Tip I: Makrosefali Ayırıcı Tanısında Düşünülmesi Gereken Bir Hastalık

Authors : Uğur IŞIK, Şebnem KUTER

Pages : 47-49

View : 38 | Download : 14

Publication Date : 2013-03-01

Article Type : Other Papers

Abstract :Glutaric aciduria type 1 is a rare autosomal recessive neurometabolic disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. Excessive levels of these aminoacids and their intermediate breakdown products glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid can accumulate and cause damage to the brain, particularly the basal ganglia, which are regions that help to control movements 1 . Early clinical diagnosis is hampered by the lack of characteristic or even pathognomonic signs and symptoms before an encephalopathic crisis 2 . In this case report, the aim is to emphasize the importance of excluding metabolic diseases in children presenting with macrocephaly
Keywords : glutaric aciduria type 1, macrocephaly, neurometabolic disorders