Molecular characterization of maple syrup urine disease patients from Tunisia

• Type: Article in International Scientific Journal
• Date: 2013

Authors

Jaafar, N (Author) Other; Moleirinho, A (Author) Other; Kerkeni, E (Author) Other; Monastiri, K (Author) Other; Seboui, H (Author) Other; Amorim, A (Author) FCUP; Prata, MJ (Author) FCUP; Quental, S (Author) Other

Journal

Title: Gene

Vol. 517

Pages: 116-119

ISSN: 0378-1119

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 9 Citations

Scopus - 10 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-002-00N

DOI: 10.1016/j.gene.2012.12.097

Abstract (EN): Maple syrup urine disease (MSUD) is a rare disorder of branched-chain amino acids (BCAA) metabolism caused by the defective function of branched-chain alpha-ketoacid dehydrogenase complex (BCKD). The disease causal mutations can occur either in BCKDHA, BCKDHB or DBT genes encoding respectively the E1 alpha, E1 beta 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.G1u239Gly) in BCKDHB and a small deletion (c.1333_1336delAATG; p.Asn445X) detected in DBT gene.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4