Maple Syrup Urine Disease: Case Evolution From Birth To One Year
Journal Title: International Journal of Medical and Health Sciences - Year 2018, Vol 7, Issue 1
Abstract
Reports of Maple syrup urine disease from rural India are rare. A relatively normal neonate at birth, showed deterioration after 72 hours of life, which aroused suspicion of inborn errors of metabolism (IEM) particularly when septic workup was negative. In such situations, specific diet modification permits management of a range of severity of illness though with guarded prognosis. Confirmation of IEM by tandem mass spectrometry (TMS) of plasma sample by filter paper method should be done since facilities are now available.
Authors and Affiliations
Rajib Chatterjee, Virat Bothra, Rujuta Joshi
Keywords
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