Neonatal Nonketotik Hiperglisinemi

Abstract

Bu çalışmada akraba evliliğinden (olan anne babadan- çıkarılacak) doğan, (artmış-çıkarılacak) serum ve beyin omurilik sıvısı glisin düzeylerinde yükseklik ile tanı konulan nonketotik hiperglisinemili bir yenidoğan sunuldu. Hipotoni, emme güçlüğü, konvülziyon ya da sepsis kuşkusu olan yenidoğanlarda doğumda sağlıklı olsalar bile, özellikle akraba evliliğinin sık olduğu ülkemizde, doğumsal metabolizma hastalıkları daima akılda tutulmalıdır.

Keywords

• Nonketotik, hiperglinisemi, yenidoğan, glisin

NEONATAL NONKETOTIC HYPERGLYCINEMIA

Abstract

In this study; a neonate born to consanguineous parents who was diagnosed as nonketotic hyperglycinemia due to high plasma and cerebrospinal fluid glycine levels is presented. In newborns presenting with hypotonia, poor feeding, seizures and/or suspected sepsis, although healthy in the delivery, inherited metabolic disorders must be investigated especially in our country because of the high rate of consanguineous marriages

Keywords

• Nonketotic, hyperglycinemia, newborn, glycine

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