Abstract
Homocysteine and the related metabolites S-adenosylmethionine and S-adenosylhomocysteine play a vital role in several vital biological processes. Disturbed levels are found in inborn errors of methionine metabolism as well as in other pathological states such as vitamin B12 or folate deficiency and renal disease. Moderately elevated plasma total homocysteine is associated with various forms of vascular disease and less strongly with neural-tube defects, neuropsychiatric disorders, impaired cognitive function, dementia, and osteoporosis. Plasma total homocysteine is measured in many routine laboratories employing various methods. The laboratory measurement of S-adenosylmethionine and S-adenosylhomocysteine in plasma plays an increasing role in studies of pathogenesis of elevated homocysteine as well as the differential diagnosis of hypermethioninaemia due to deficiencies of methionine adenosyltransferase, glycine methyltransferase or S-adenosylhomocysteine hydrolase. Those methods that are often available in laboratories involved in the investigation of inborn errors of metabolism namely HPLC and tandem mass spectrometry are described in detail in this chapter.
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Fowler, B. (2008). Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine. In: Blau, N., Duran, M., Gibson, K. (eds) Laboratory Guide to the Methods in Biochemical Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-76698-8_6
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DOI: https://doi.org/10.1007/978-3-540-76698-8_6
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