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Disorders of homocysteine metabolism

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Journal of Inherited Metabolic Disease

Abstract

This review of recent advances covers (1) the metabolism of methionine and its regulation, emphasizing interactions with the three important vitamins folate, cobalamin and pyridoxine; (2) present knowledge of enzymological and molecular-genetic aspects of homozygous deficiencies of the three enzymes which cause elevated homocyst(e)ine; (3) recent clinical findings, post-methionine loading results related to enzyme and mutation studies in obligate heterozygotes for cystathionine β-synthase deficiency; (4) important new evidence for disturbed homocysteine metabolism in neural tube defects, particularly based on studies of the thermolabile methylene-tetrahydrofolate reductase mutation which is also of importance in vascular disease; (5) the suitability and limitations of animal models that have so far been described.

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  1. University Children's Hospital, Römergasse 8, Postfach, CH-4005, Basel, Switzerland

    B. Fowler

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Fowler, B. Disorders of homocysteine metabolism. J Inherit Metab Dis 20, 270–285 (1997). https://doi.org/10.1023/A:1005369109055

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