Maple Syrup Urine Disease – A Rare Case Report
Journal Title: Scholars Journal of Medical Case Reports - Year 2018, Vol 6, Issue 3
Abstract
Maple syrup urine disease (MSUD) is an inborn error of metabolism. It is a rare autosomal recessive inheritance disorder.It occurs in 1 in180, 000 infants. It is due to the defect in the metabolism of branched chain amino acids such as valine, leucine, and isoleucine. The enzyme deficient is mitochondrial branched-chain alpha-ketoacid dehydrogenase complex (BCKAD).we have presented a case report of a new born baby girl with classical symptoms of maple surup urine disease. It was confirmed by high performance liquid chromatography (HPLC). Dietary management was done by pediatrician. Baby responds well to the treatment.
Authors and Affiliations
Dr. S. Shenbagalalitha, Dr. R. Harini, Dr. B. Shanthi
Keywords
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