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Disorders of homocysteine metabolism
Author(s) -
Fowler B.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005369109055
Subject(s) - cystathionine beta synthase , methylenetetrahydrofolate reductase , homocystinuria , homocysteine , methionine synthase , cobalamin , methionine , thermolabile , biology , biochemistry , hyperhomocysteinemia , transsulfuration , enzyme , cysteine , vitamin b12 , amino acid , allele , gene
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.