| CASE REPORT |
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| Year : 2013 | Volume
: 2
| Issue : 2 | Page : 98-100 |
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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
 Source of Support: None, Conflict of Interest: None  | Check |
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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