Centaur 1948

Digitised by the Faculty of the Veterinary Scienc

Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline

Contains fulltext : 238438.pdf (Publisher’s version ) (Open Access

Molecular genetic analysis in hyperhomocysteinemia

Contains fulltext : 146550.pdf (Publisher’s version ) (Open Access)Promotores : J. Trijbels, H. Blom en G. Boers190 p

C677T mutation of methylenetetrahydrofolate reductase gene determined in blood or plasma by multiple-injection capillary electrophoresis and laser-induced fluorescence detection

Contains fulltext : 25391___.PDF (publisher's version ) (Open Access

Genetics of hyperhomocysteinaemia in cardiovascular disease.

Item does not contain fulltextHomocysteine, a sulphur amino acid, is a branch-point intermediate of methionine metabolism. It can be degraded in the transsulphuration pathway to cystathionine, or remethylated to methionine via the remethylation pathway. In both pathways, major genetic defects that cause enzyme deficiencies are associated with very high plasma homocysteine concentrations and excretion of homocystine into the urine. Mildly elevated plasma homocysteine concentrations are thought to be an independent and graded risk factor for both arterial occlusive disease and venous thrombosis. Genetic defects in genes encoding enzymes involved in homocysteine metabolism, or depletion of important cofactors or (co)substrates for those enzymes, including folate, vitamin B(12) and vitamin B(6), may result in elevated plasma homocysteine concentrations. Plasma homocysteine concentrations are also influenced by dietary and lifestyle factors. In the last decade, several studies have been conducted to elucidate the genetic determinants of hyperhomocysteinaemia in patients with cardiovascular disease. We report on both environmental and genetic determinants of hyperhomocysteinaemia and give a detailed overview of all the genetic determinants that have been reported to date