Article
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.
Archives of biochemistry and biophysics - 1 Jan 1998
Casale C H, Casals N, Pié J, Zapater N, Pérez-Cerdá C, Merinero B, Martínez-Pardo M, García-Peñas J J, García-Gonzalez J M, Lama R, Poll-The B T, Smeitink J A, Wanders R J, Ugarte M, Hegardt F G
Abstract excerpt
3-Hydroxy-3-methylglutaric aciduria is a rare recessive monogenic disorder that affects ketogenesis and the catabolism of L-leucine. We report the biochemical and molecular characterization of a mutation in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene in four new probands, three Spanish and one Turkish, affected by 3-hydroxy-3-methylglutaric aciduria, all homozygous for the nonsense mutation Glu37Ter,...
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