Neonatal Glisin Ensefalopatisi

Year 2009, Volume: 9 Issue: 2, 100 - 103, 01.04.2009

Emrah Can Ali Bülbül Serdar Cömert Fatih Bolat Füsun Okan Asiye Nuhoğlu

Abstract

Glisin ensefalopatisi otozomal resesif geçişle karakterize, yenidoğan ve erken çocukluk döneminde hızlı seyir izleyen metabolik bir bozukluktur. İnsidansı 1:60000-100000 olarak bildirilmektedir. Glisin aminoasidini parçalayıcı enzim kompleksindeki bozukluk hastalığın temel nedenidir. Başlıca semptomları yaşamın erken döneminde saptanan hipotoni, konvülsiyon, apne atakları, letarji ve komadır. Birçok vaka yaşamın ilk haftaları içinde kaybedilir. Yaşayan bebeklerde ciddi psikomotor retardasyon saptanır. Spesifik bir tedavisi yoktur. Düşük proteinli diyetle kombine sodyum benzoat, dekstrometorfan, ketamin, triptofan, diazepam, striknin, tri- siklik antidsepresanlar, imipramin ve folinik asid gibi çeşitli ajanlar vaka bazında kullanılmaktadır. Bu makalede farklı şekillerde prezente olan ve ileri tetkikleri sonucu neonatal NKH tanısı alan iki vaka sunulmuştur

Keywords

Ensefalopati, hiperglisinemi, yenidoğan

Neonatal Glycine Encephalopathy

Abstract

Glycine encephalopathy is an autosomal recessively inhe- rited metabolic disease with a progressive course in neo- natal period and early infancy. Incidence of the disease is reported to be 1:60000-100000. The basic cause of the disease is the defect in enzyme complex degrading the aminoacid glycine. The major symptoms are hypotonia, convulsion, apnea spells, lethargy and coma. The majority of the patients die within the first week of life. Among sur- vivors severe psychomotor retardation may be observed. No specific treatment of the disease is present. Some treat- ment regimens like low protein diet, sodium benzoate, dextrometorphane, ketamine, triptophane, diazepam, stric- nine, tricyclic antidepressents, imipramin and folinic acid may be used for individual cases. In this report two cases with different clinical manifestations who were diagnosed to have Neonatal NKH are presented

Keywords

Encephalopathy, hyperglycinemia, neonate

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