Metabolic signatures of galactosemia in magnetic resonance

The paper explores the information provided by various magnetic resonance (MR) techniques in the diagnosis of galactosemia. Galactosemia (GA) is an autosomal recessive inborn error of metabolism, included in the category disorders of carbohydrate metabolism. In this disorder, the body is unable to metabolize galactose, leading to the accumulation of toxic intermediates like galactose-1-phosphate, galactitol, and galactonate. The information provided by magnetic resonance imaging (MRI), localized nuclear magnetic resonance spectroscopy (MRS), and non-localized nuclear magnetic resonance (NMR) is complementary both in terms of data supplied and organ/body fluid targeted. In spite of this complementarity, we found that these MR techniques have never been jointly applied in the diagnosis of GA.