Title of article
A Novel Mutation in the BCKDHB Gene Causes in an Iranian Child Classic Maple Syrup Urine Disease
Author/Authors
Safdarian، Esmat نويسنده Department of Biology, Faculty of Sciences, University of Zanjan, Zanajn, IR Iran , , Galehdari، Hamid نويسنده , , Jafarian، Vahab نويسنده Department of Biology, Faculty of Sciences, University of Zanjan, Zanajn, IR Iran , , Shafee، Mohammad نويسنده Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, IR Iran , , Shariati، Gholamreza نويسنده Narges Genetic Lab, Mihan St., Kianpars, Ahvaz, Iran. , , Hamid، Mohammad نويسنده Molecular Medicine Division, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran , , Saberi، Alihossein نويسنده Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, IR Iran ,
Issue Information
ماهنامه با شماره پیاپی سال 2016
Pages
5
From page
1
To page
5
Abstract
Background
Maple syrup urine disease (MSUD) is a rare metabolic disorder caused by deficiency in branched chain alpha-keto acid dehydrogenase complex (BCKD).
Methods
In this study, the coding regions and flanking splice sites of the BCKDHA, BCKDHB, DBT and DLD genes have been sequenced in an Iranian 3 years old girl.
Results
A novel homozygous mutation (p.Glu330Lys) was detected in the BCKDHB gene. In silico analysis showed significant change in the 3-D protein Structure.
Conclusions
This alteration probably affects the structure and function of the E1β subunit of BCKD complex.
Journal title
Zahedan Journal of Research in Medical Sciences
Serial Year
2016
Journal title
Zahedan Journal of Research in Medical Sciences
Record number
2394967
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