Open AccessNeuroradiological findings in maple syrup urine disease
Author(s) -
Venkatraman Indiran,
R Emmanuel Gunaseelan
Publication year - 2013
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.111419
Subject(s) - maple syrup urine disease , medicine , maple , urine , catabolism , inborn error of metabolism , disease , amino acid , biochemistry , metabolism , leucine , botany , biology
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.