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Year : 2013  |  Volume : 8  |  Issue : 1  |  Page : 31-33

Neuroradiological findings in maple syrup urine disease

1 Department of Radiodiagnosis, Sree Balaji Medical College and Hospital, Chennai, India
2 Department of Radiodiagnosis, Bharat Scans, Chennai, India

Correspondence Address:
Venkatraman Indiran
32, Kumarapuram, Chromepet, Chennai - 600 044, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1817-1745.111419

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Maple syrup urine disease is a rare inborn error of amino acid metabolism involving catabolic pathway of the branched-chain amino acids. This disease, if left untreated, may cause damage to the brain and may even cause death. These patients typically present with distinctive maple syrup odour of sweat and urine. Patients typically present with skin and urine smelling like maple syrup. Here we describe a case with relevant magnetic resonance imaging findings and confirmatory biochemical findings.


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