Abstract:Background: Maple syrup urine disease (MSUD) is a rare inborn error of metabolism of branched-chain amino acids valine, leucine and isoleucine. It is characterized by neurodevelopmental disorders, encephalopathy, and a maple syrup odour in the urine. Objectives: To describe the clinical profile and presentations of MSUD at Children Welfare Teaching Hospital, Iraq. Method: A descriptive retrospective cross-sectional study included patients with MSUD who were registered at Children Welfare Teaching Hospital in I… Show more
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