Diffusion weighted imaging and MR spectroscopic findings in maple syrup urine disease: The importance of early radiological diagnosis in the prevention of cerebral parenchymal damage

Abstract

Maple Syrup Urine Disease is a very rare autosomal recessive inherited disease that results from the defect in the catalytic activity of the alpha ketoacid dehydrogenase enzyme complex. The deficiency in the catabolism of branched chain amino acids naturally results in the accumulation of these amino acids (leucine, isoleucine and valine) and toxic metabolic end products in human blood and urine. In this study, the importance in early diagnosis of cranial DWI imaging and MR spectroscopy and evaluation of treatment efficacy in a newborn who was referred to the emergency room with ketoacidotic coma was reported. © 2021, Medcom Limited. All rights reserved.