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Journals / Türkiye Çocuk Hastalıkları Dergisi / 2012 / Cilt: 6 Sayı: 1

NEONATAL NONKETOTIC HYPERGLYCINEMIA

Neonatal Nonketotik Hiperglisinemi

Abdullah Kurt(Başkent Üniversitesi Tıp Fakültesi, Neonatoloji Bilim Dalı, ANKARA)
Yaşar Doğan(Başkent Üniversitesi Tıp Fakültesi, Neonatoloji Bilim Dalı, ANKARA)
İsmail Şengül(Başkent Üniversitesi Tıp Fakültesi, Neonatoloji Bilim Dalı, ANKARA)
Ayşegül Neşe Çitak Kurt(Başkent Üniversitesi Tıp Fakültesi, Neonatoloji Bilim Dalı, ANKARA)
Saadet Akarsu(Gazi Üniversitesi Tıp Fakültesi, Pediatrik Nöroloji Bilim Dalı, ANKARA)
A. Denizmen Aygün(Gazi Üniversitesi Tıp Fakültesi, Pediatrik Nöroloji Bilim Dalı, ANKARA)
Pages
54–58
Publication Date
2012-12-01
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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

📌 3 Key Takeaways

🎯
Objective & Hypothesis: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.
📊
Key Findings & Data: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.
💡
Conclusion & Impact: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
🔬Design:Makale
📍Scope:Comprehensive Sample
⚙️Variables:Nonketotik · hiperglinisemi · yenidoğan

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

Özet

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.

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Cite This Article

Kurt, A., Doğan, Y., Şengül, İ., Kurt, A. N. Ç., Akarsu, S., Aygün, A. D. (2012). NEONATAL NONKETOTIC HYPERGLYCINEMIA. Türkiye Çocuk Hastalıkları Dergisi, Cilt: 6 Sayı: 1, 54–58. https://ajindex.com/articles/1435986

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