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

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

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,...

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Bibliographic Details
Main Authors: Alieh Mirzaee, Narges Pishva, Zohreh Karamizadeh, Jurgen Kohlhase, Shahnaz Purarian, Fariba Hemmati, Mostajab Razavi, Shiva Nasirabadi
Format: Article
Language:English
Published: Mashhad University of Medical Sciences 2017-09-01
Series:Iranian Journal of Neonatology
Subjects:
BCKD deficiency
DNA mutational analysis
Maple syrup urine disease
Online Access:http://ijn.mums.ac.ir/article_9374_32e072f96fdca8beb34d8107c06b4910.pdf

Internet

http://ijn.mums.ac.ir/article_9374_32e072f96fdca8beb34d8107c06b4910.pdf

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