IMAGING AND BIOCHEMICAL FINDINGS IN MAPLE SYRUP URINE DISEASE-A CASE REPORT

Gajera, Bhanderi, Mishra, M Goyal, Mr, M Madhur, Goyal
unpublished
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder. It 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 byproducts (ketoacids) in the blood and urine. Imaging is characterestized by MSUD oedema affecting the myelinated white matter. We present a neonatal case with classic type of MSUD with radiological findings confirmed by
more » ... s confirmed by biochemical investigations.
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