Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 2013 , Vol 4, Issue 1
Glutaric Aciduria Type 1: a Disease That Should Be Considered In The Differential Diagnosis of Macrocephaly
Uğur Işık, Şebnem Kuter
Acıbadem Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, İstanbul, Türkiye 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