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 ,
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.
