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

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

• Galactosemia
• proton magnetic resonance spectroscopy
• newborn

Yenidoğanlarda Galaktozemi Tanısında Proton Manyetik Rezonans Spektroskopisinin Yeri

Abstract

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.

Keywords

• Galaktozemi
• proton manyetik rezonans spektroskopisi
• yenidoğan

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