Gülen GÜL MERT, Neslihan ÖNENLİ, Nilgün Uyduran ÜNAL, Didem YÜCEL, Deniz KÖR

Glutarik Asidüri Tip I de Yeni Bir Mutasyon Tanımlanan

Glutarik asidüri tip I glutaril KoA dehidrogenaz enziminin eksikliğine bağlı olarak gelişen ve otozomal resesif olarak kalıtılan bir metabolik hastalıktır. İnsidansı yaklaşık 1/ 100,000 dir. Glutaril KoA dehidrogenaz enziminin geni kromozom 19p13.2 dedir. Bu gende 200 farklı mutasyon tanımlanmıştır. Toplumda en sık görülen mutasyon C1240 T dir. Mutasyon tipi hastalığın fenotipini etkilemekle beraber aralarında kesin bir ilişki bulunamamıştır. Klinikte makrosefali, emme ve yutma reflekslerinin kaybolması, oturamama, koreatetoz, nöbetler, rijidite ve opistotonus gibi nörolojik regresyon bulguları vardır. Tedavide yüksek karbonhidratlı, düşük proteinli diyet ve karnitin verilir. Bizde glutarik asidüri tip I nedeniyle takibimize giren bir hastada daha önce tanımlanmamış bir mutasyonu saptadığımız için ilginç bularak bildirdik.

A Case of Glutaric Aciduria Type I with a Novel Mutation

Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2. More than 200 mutations have been described for this gene. Most common mutation in the population is C1240T. Clinical symptoms included neurological regression complications such as loss of sucking and swallowing reflexes choreoathetosis, seizures, rigidity and opisthotonos. In treatment high-carbohydrate, low-protein diet and carnitine is given. We would like to report this interesting case in order to present a new mutation for glutaric aciduria type I.

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