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Articles tagged with Amino acid disorders

  • Maple Syrup Urine Disease Gene Panel

    Maple syrup urine disease (MSUD) is an inherited metabolic disorder characterized by the distinctive sweet odor of the affected infants’ urine. MSUD is caused by the deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKAD), causing abnormal accumulation of the branched-chain…