A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene

• Main Authors: Alieh Mirzaee (Author), Narges Pishva (Author), Zohreh Karamizadeh (Author), Jurgen Kohlhase (Author), Shahnaz Purarian (Author), Fariba Hemmati (Author), Mostajab Razavi (Author), Shiva Nasirabadi (Author)
• Format: Book
• Published: Mashhad University of Medical Sciences, 2017-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex. In MSUD, elevation of the branched-chain amino acids, such as alpha-keto acid and alpha-hydroxy acid,...