title: Disorders of homocysteine metabolism.
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 moleculargenetic 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 beta-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.
authors.affiliation: University Children's Hospital, Basel, Switzerland.
authors.forename: B
authors.initials: B
authors.lastname: Fowler
mesh_terms: D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism; D000818:Animals; D003541:Cystathionine beta-Synthase / Q000172:deficiency / Q000235:genetics; D004195:Disease Models, Animal; D006710:Homocysteine / Q000378:metabolism*; D006801:Humans; D008715:Methionine / Q000378:metabolism; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009436:Neural Tube Defects; D010088:Oxidoreductases / Q000172:deficiency
chemical_list: D006710:Homocysteine; D008715:Methionine; D010088:Oxidoreductases; D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; D003541:Cystathionine beta-Synthase