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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


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
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2249-4847.116411

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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.


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