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Soofiya Nazneen

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Open access Sep 2026

Thiamine-Responsive Maple Syrup Urine Disease in an Infant: A Rare Inborn Error of Branched-Chain Amino Acid Metabolism

Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive inborn error of metabolism caused by deficient activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Case Presentation: We report the case of a 3-month-old male infant, born to a non-consanguineous couple, who presente...

Tasmiya D, Soofiya Nazneen, Mohammed Numaan Ali · 0 citations

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