Biochemistry & Analytical Biochemistry

Molecular analysis of maple syrup urine disease in Jordanian families

International Conference on Clinical Chemistry & Laboratory Medicine

October 17-18, 2016 Chicago, USA

Hebah Mohammad Deebajah

Jordan University of Science and Technology, Jordan

Posters & Accepted Abstracts: Biochem Anal Biochem

Abstract:

Maple Syrup Urine Disease (MSUD) is an autosomal recessive inborn error of amino acid metabolism characterized the accumulation of three branched chain amino acids (BCAAs) in patients�?? cells due to reduced activity of the branched alpha ketoacid dehydrogenase complex (BCKD). In this study, we aimed to sequence the coding exons of the BCKDHA, BCKDHB, and DBT genes in five Jordanian families with MSUD and one family from Iraq with MUSD. BCAA levels were measured in probands initially presenting with developmental delay and encephalopathy. All of the coding exons and flanking intronic sequences of the BCKDHA, BCKDHB, and DBT genes were amplified and subjected to direct DNA sequencing. Four different mutations in the BCKDHA gene were identified, including a novel frame mutation, c908-909delTG, in family 4. Two novel mis-sense mutations at residues Met263 and Gly353 in the DBT gene were also found to be co-segregated with the MSUD phenotype in families 5 and 6, respectively. Structural analyses suggested that these two mutations may affect the assembly of the intermediate E2 trimer. No BCKDHB gene mutations were found in Jordanian patients. The mutation profiles described in this study provide a basis for the early detection of MSUD disease. To our knowledge this is the first molecular study of MSUD in Jordan and Middle Eastern Arabic countries.

Biography :

Hebah Mohammad Deebajah has BCS in Pharmacy working in Princess Haya Biotechnology Center (PHBC) in Jordan University of Science and Technology since 2006 to till date. She is working in metabolomics lab and is a specialist on the amino acid analyzer and newborn screening on LC/MS-MS water.

Email: viphebah@just.edu.jo