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

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Uludağ Üniversitesi Tıp Fakültesi Dergisi
Volume:50 Issue:3
The Role of Proton Magnetic Resonance Spectroscopy in the Diagnosis of Galactosemia in Neonates

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

Authors : Salih Çağrı Çakır, Cengiz Gökhan Orcan, Bayram Ali Dorum, Hilal Özkan, Nilgün Köksal, Sevil Yıldız, Şahin Erdöl

Pages : 561-563

Doi:10.32708/uutfd.1563492

View : 39 | Download : 54

Publication Date : 2025-01-12

Article Type : Other Papers

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.
Keywords : Galaktozemi, proton manyetik rezonans spektroskopisi, yenidoğan

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