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Journals / Uludağ Üniversitesi Tıp Fakültesi Dergisi / 2025 / Cilt: 50 Sayı: 3

The Role of Proton Magnetic Resonance Spectroscopy in the Diagnosis of Galactosemia in Neonates

Yenidoğanlarda Galaktozemi Tanısında Proton Manyetik Rezonans Spektroskopisinin Yeri

Salih Çağrı Çakır(Bursa Uludağ University Faculty of Medicine, Department of Child Health and Diseases, Division of Neonatology, Bursa, Türkiye.)0000-0001-5761-4757
Cengiz Gökhan Orcan(Bursa Uludag University Faculty of Medicine, Department of Radiology, Division of Pediatric Radiology, Bursa, Türkiye.)0000-0003-2970-8021
Bayram Ali Dorum(Bursa City Hospital, Neonatology Department, Bursa, Türkiye.)0000-0002-2823-8454
Hilal Özkan(Bursa Uludağ University Faculty of Medicine, Department of Child Health and Diseases, Division of Neonatology, Bursa, Türkiye.)0000-0001-5454-5119
Nilgün Köksal(Bursa Uludağ University Faculty of Medicine, Department of Child Health and Diseases, Division of Neonatology, Bursa, Türkiye.)0000-0002-6067-3886
Sevil Yıldız(Bursa Yuksek Ihtisas Training and Research Hospital, Department of Child Health and Diseases, Division of Pediatric Metabolism, Bursa, Türkiye.)0000-0001-6947-2573
Şahin Erdöl(Bursa Uludağ University Faculty of Medicine, Department of Child Health and Diseases, Division of Pediatric Metabolism, Bursa, Türkiye.)0000-0003-4402-9609
Pages
561–563
Publication Date
2025-01-12
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AI Summary & Key Takeaways

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

Brain H-MRS is a valuable method for early diagnosis of galactosemia patients.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Classic galactosemia, the most common form of galactosemia, is a disorder of galactose metabolism caused by the hereditary deficiency of the galactose-1-phosphate uridyl transferase (GALT) enzyme.
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Key Findings & Data:We have reported a 22-day-old galactosemic neonate diagnosed with a galactitol peak in brain MRS.
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Conclusion & Impact:Brain H-MRS is a valuable method for early diagnosis of galactosemia patients.
🔬Design:Olgu Sunumu
📍Scope:Comprehensive Sample
⚙️Variables:Galaktozemi · proton manyetik rezonans spektroskopisi · yenidoğan

Abstract

Classic galactosemia, the most common form of galactosemia, is a disorder of galactose metabolism caused by the hereditary deficiency of the galactose-1-phosphate uridyl transferase (GALT) enzyme. Life-threatening toxic symptoms and brain edema occur during the neonatal period due to the accumulation of galactose and its metabolites in the tissues of patients without galactose restriction. Galactitol, a toxic substance that accumulates in the brain, is identified as abnormal peaks in Magnetic Resonance Spectroscopy (MRS). We have reported a 22-day-old galactosemic neonate diagnosed with a galactitol peak in brain MRS. Brain H-MRS is a valuable method for early diagnosis of galactosemia patients.

Özet

Klasik galaktozemi, galaktozeminin en sık görülen formu olup, galaktoz-1-fosfat uridil transferaz enziminin kalıtsal eksikliğinden kaynaklanan bir galaktoz metabolizması bozukluğudur. Galaktoz kısıtlaması olmayan hastaların dokularında galaktoz ve metabolitlerinin birikmesi nedeniyle yenidoğan döneminde yaşamı tehdit eden toksik semptomlar ve beyin ödemi ortaya çıkar. Beyinde biriken bu toksik maddelerden galaktitol, Manyetik Rezonans Spektroskopisi'nde (MRS) anormal pikler olarak tespit edilir. Beyin MRS'de galaktitol piki ile galaktozemi tanısı konulan 22 günlük bir yenidoğan olgusunu raporladık. Beyin MRS, galaktozemi hastalarının erken tanısı için değerli bir yöntemdir.

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Cite This Article

Çakır, S. Ç., Orcan, C. G., Dorum, B. A., Özkan, H., Köksal, N., Yıldız, S., Erdöl, Ş., *, S. Ç. Ç. (2025). The Role of Proton Magnetic Resonance Spectroscopy in the Diagnosis of Galactosemia in Neonates. Uludağ Üniversitesi Tıp Fakültesi Dergisi, Cilt: 50 Sayı: 3, 561–563. https://doi.org/10.32708/uutfd.1563492

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