A Novel Mutation in the BCKDHB Gene Causes in an Iranian Child Classic Maple Syrup Urine Disease
| Author | Esmat Safdarian | en |
| Author | Hamid Galehdari | en |
| Author | Vahab Jafarian | en |
| Author | Mohammad Shafee | en |
| Author | Gholamreza Shariati | en |
| Author | Mohammad Hamid | en |
| Author | Alihossein Saberi | en |
| Orcid | Hamid Galehdari [0000-0001-6281-4809] | en |
| Orcid | Gholamreza Shariati [0000-0002-6295-127X] | en |
| Issued Date | 2016-10-31 | en |
| 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. | en |
| DOI | https://doi.org/10.17795/zjrms-3399 | en |
| URI | https://brieflands.com/journals/zjrms/articles/3399 | en |
| Keyword | Maple Syrup Urine Disease | en |
| Keyword | Inborn Metabolic Disorder | en |
| Keyword | Amino Acid Metabolism | en |
| Publisher | Brieflands | en |
| Title | A Novel Mutation in the BCKDHB Gene Causes in an Iranian Child Classic Maple Syrup Urine Disease | en |
| Type | Case Report | en |