Molecular characterization of maple syrup urine disease patients from Tunisia

• Published in: Gene 2013-03, Vol.517 (1), p.116-119
• Main Authors: Jaafar, N., Moleirinho, A., Kerkeni, E., Monastiri, K., Seboui, H., Amorim, A., Prata, M.J., Quental, S.
• Format: Article
• Language: English
• Subjects: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) - genetics; amino acids; BCKDHA; BCKDHB; Branched-chain α-ketoacid dehydrogenase complex; DBT; Female; genes; Humans; Infant, Newborn; Male; Maple syrup urine disease; Maple Syrup Urine Disease - enzymology; Maple Syrup Urine Disease - genetics; Maple Syrup Urine Disease - pathology; metabolism; mutation; Mutation - genetics; Oxidoreductases - genetics; patients; Prognosis; Sequence Deletion - genetics; Tunisia
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2012.12.097

Maple syrup urine disease (MSUD) is a rare disorder of branched-chain amino acids (BCAA) metabolism caused by the defective function of branched-chain α-ketoacid dehydrogenase complex (BCKD). The disease causal mutations can occur either in BCKDHA, BCKDHB or DBT genes encoding respectively the E1α, E1β and E2 subunits of the complex. In this study we report the molecular characterization of 3 Tunisian patients with the classic form of MSUD. Two novel putative mutations have been identified: the alteration c.716A>G (p.Glu239Gly) in BCKDHB and a small deletion (c.1333_1336delAATG; p.Asn445X) detected in DBT gene. ► First molecular characterization of maple syrup urine disease Tunisian patients ► Identification of a new MSUD causal mutation in BCKDHB gene (c.716A>G; p.Glu239Gly) ► Evaluation of the functional impact of the mutation p.Glu239Gly of BCKDHB gene ► Identification of a new MSUD causal mutation in DBT (c.1333_1336delAATG; p.Asn445X)