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

Glutarik asidüri tip 1, otozomal resesif geçiş gösteren ender bir nörometabolik hastalıktır. Lizin, hidroksilizin ve triptofan metabolizmasındaki glutaril-koenzim A dehidrogenaz enzim aktivitesinin eksikliğine bağlı olarak ortaya çıkar. Bu aminoasitlerin ve kısmen yıkılan ara ürünlerinin glutarik asit, glutaril-koenzim A, 3-hidroksiglutarik asit, glutakonik asit artışı, beyinde özellikle hareket kontrolü ile görevli bazal ganglionlarda birikerek hasara yol açar 1 . Ensefalopatik kriz öncesinde karakteristik veya patognomonik belirti ve semptomların olmaması erken klinik tanıyı zorlaştırır 2 . Bu olgu sunumunda amaç makrosefalik seyreden hastalara ailesel makrosefali tanısı koymadan önce metabolik hastalıkların dışlanmasının önemini vurgulamaktır

Glutaric Aciduria Type 1: a Disease That Should Be Considered In The Differential Diagnosis of Macrocephaly

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,

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