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Journals / Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi / 2022 / Volume: 36 Issue: 3

Galactosemia: Not To Be Missed Cause of Neonatal Jaundice

Can Akyıldız(DOKUZ EYLÜL ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0002-7087-7006
Tuğba Üçüncü Egeli(DOKUZ EYLÜL ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0003-1014-4852
Coşkun Armağan(DOKUZ EYLÜL ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0001-9716-130X
Ayça Aydoğan(DOKUZ EYLÜL ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0003-0937-540X
Pages
347–349
Publication Date
2023-01-27
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AI Summary & Key Takeaways

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

It has been shared to emphasize the importance of assessment and urgent management of the disease during the neonatal period.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:A case representing neonatal jaundice that includes direct and indirect hyperbilirubinemia was diagnosed with classical galactosemia.
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Key Findings & Data:Even though she was initially approached as a neonatal sepsis case, after the cessation of her milk consumption, jaundice resolved, and the diagnosis was made and supported by additional diagnostic tools.
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Conclusion & Impact:It has been shared to emphasize the importance of assessment and urgent management of the disease during the neonatal period.
🔬Design:Olgu Sunumu
📍Scope:Comprehensive Sample
⚙️Variables:galaktozemi · neonatal sarılık · anne sütü

Abstract

A case representing neonatal jaundice that includes direct and indirect hyperbilirubinemia was diagnosed with classical galactosemia. Even though she was initially approached as a neonatal sepsis case, after the cessation of her milk consumption, jaundice resolved, and the diagnosis was made and supported by additional diagnostic tools. It has been shared to emphasize the importance of assessment and urgent management of the disease during the neonatal period.

Özet

Sarılık nedeniyle başvuran direk ve indirek hiperbilirubinemi saptanan yenidoğan olgusunda klasik galaktozemi tanısı konulmuş ve genetik mutasyon sonucuyla tanı doğrulanmıştır. Bu olgu, yenidoğan döneminde saptanan sarılığın galaktozemi açısından acil değerlendirilmesinin ve tedavisinin önemini vurgulamak için paylaşılmıştır.

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Cite This Article

Akyıldız, C., Egeli, T. Ü., Armağan, C., Aydoğan, A. (2023). Galactosemia: Not To Be Missed Cause of Neonatal Jaundice. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi, Volume: 36 Issue: 3, 347–349. https://doi.org/10.18614/deutip.1163219

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References (7)

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