Different Gene Preferences of Maple Syrup Urine Disease in the Aboriginal Tribes of Taiwan

• Auteurs principaux: Jia-Woei Hou (Auteur), Tsann-Long Hwang (Auteur)
• Format: Livre
• Publié: Elsevier, 2014-06-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Maple syrup urine disease (MSUD) is a rare inborn error of metabolism caused by a deficiency of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in any one of the three different genes encoding for the BCKD components, namely, BCKDHA, BCKDHB, and DBT, may be responsible for this...