MAPLE SYRUP URINE DISEASE - A RARE CASE REPORT
Journal: University Journal of Pre and Paraclinical Sciences (Vol.5, No. 3)Publication Date: 2019-07-31
Authors : DEEPA P;
Page : 23-24
Keywords : Branched chain aminoacids; Maple Syrup Urine Disease; Urine DiNitroPhenylHydrazine(DNPH) test.;
Abstract
Maple Syrup Urine Disease is an autosomal recessive disorder, due to deficiency of branched chain alpha ketoacid dehydrogenase.11 months old male baby with regression of milestones, refusal of feeds, abnormal odour on passing urine, with elevated ammonia levels, urine DNPH positive, Tandem Mass Spectrometry showed elevated valine and high leucine isoleucine ratio. All reports are suggestive of Maple Syrup Urine Disease.
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Last modified: 2019-07-01 19:48:37