Journal of Clinical Neonatology

CASE REPORT
Year
: 2013  |  Volume : 2  |  Issue : 2  |  Page : 98--100

Imaging in classic form of maple syrup urine disease: A rare metabolic central nervous system


Aditi Jain, K Jagdeesh, Ranoji Mane, Saurabh Singla 
 Department of Radiodiagnosis, M S Ramaiah Medical College and Teaching Hospital, Bangalore, Karnataka, India

Correspondence Address:
Saurabh Singla
B 101, M.S Palazzo, 491, Jakkur Main Road, Yelahanka Hobli, Bangalore - 560 064, Karnataka
India

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«SQ» 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.


How to cite this article:
Jain A, Jagdeesh K, Mane R, Singla S. Imaging in classic form of maple syrup urine disease: A rare metabolic central nervous system.J Clin Neonatol 2013;2:98-100


How to cite this URL:
Jain A, Jagdeesh K, Mane R, Singla S. Imaging in classic form of maple syrup urine disease: A rare metabolic central nervous system. J Clin Neonatol [serial online] 2013 [cited 2021 Dec 2 ];2:98-100
Available from: https://www.jcnonweb.com/article.asp?issn=2249-4847;year=2013;volume=2;issue=2;spage=98;epage=100;aulast=Jain;type=0