Open AccessImaging in classic form of maple syrup urine disease: A rare metabolic central nervous system
Author(s) -
Aditi Jain,
K. S. Jagdeesh,
Ranoji Mane,
Saurabh Singla
Publication year - 2013
Publication title -
journal of clinical neonatology/journal of clinical neonatology
Language(s) - English
Resource type - Journals
eISSN - 1658-6093
pISSN - 2249-4847
DOI - 10.4103/2249-4847.116411
Subject(s) - maple syrup urine disease , isoleucine , valine , leucine , medicine , magnetic resonance imaging , amino acid , urine , biochemistry , pathology , chemistry , radiology
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder of branched-chain amino acid metabolism. The condition gets its name from the distinctive sweet odour of affected infants' urine. MSUD is caused by a deficiency of the branched-chain α-ketoacid dehydrogenase enzyme complex, leading to accumulation of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products (ketoacids) in the blood and urine. Imaging is characterestized by MSUD oedema affecting the myelinated white matter. We present a neonate with classic type of MSUD and its imaging features on computed tomography, conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy.