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

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.