title: Molecular characterization of maple syrup urine disease patients from Tunisia.
abstract: 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.
authors: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Rua Dr. Roberto Frias s/n, 4200-465 Porto, Portugal.
authors: N
authors: N
authors: Jaafar
authors: A
authors: A
authors: Moleirinho
authors: E
authors: E
authors: Kerkeni
authors: K
authors: K
authors: Monastiri
authors: H
authors: H
authors: Seboui
authors: A
authors: A
authors: Amorim
authors: M J
authors: MJ
authors: Prata
authors: S
authors: S
authors: Quental
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008375:Maple Syrup Urine Disease / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D010088:Oxidoreductases / Q000235:genetics*; D011379:Prognosis; D017384:Sequence Deletion / Q000235:genetics*; D014416:Tunisia
chemical_list: D010088:Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); C090100:dibenzothiophene monooxygenase