Molecular characterization of maple syrup urine disease patients from Tunisia

Gene. 2013 Mar 15;517(1):116-9. doi: 10.1016/j.gene.2012.12.097. Epub 2013 Jan 9.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Maple Syrup Urine Disease / enzymology
  • Maple Syrup Urine Disease / genetics
  • Maple Syrup Urine Disease / pathology*
  • Mutation / genetics*
  • Oxidoreductases / genetics*
  • Prognosis
  • Sequence Deletion / genetics*
  • Tunisia

Substances

  • Oxidoreductases
  • 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
  • dibenzothiophene monooxygenase