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Homocystinuria: Studies on cystathionine β‐synthase, S ‐adenosylmethionine synthetase and cystathionase activities in skin fibroblasts
Author(s) -
Bittles A. H.,
Carson N. A. J.
Publication year - 1981
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 - 10.1007/bf02263573
Subject(s) - homocystinuria , cystathionine beta synthase , pyridoxine , cystathionine gamma lyase , enzyme , fibroblast , heterozygote advantage , biochemistry , atp synthase , biology , enzyme assay , medicine , endocrinology , chemistry , gene , amino acid , cysteine , genotype , in vitro , methionine
Cystathionine β‐synthase, S ‐adenosylmethionine synthetase and cystathionase activities were assayed in skin fibroblast cultures from five pyridoxine responsive and five pyridoxine non‐responsive homocystinurics, six obligate heterozygotes for homocystinuria and ten normal control subjects. The specific deficiency in cystathionine β‐synthase activity was confirmed in nine of the homocystinuric cultures. However, in one pyridoxine responsive case the level of cystathionine β‐synthase activity was found to be comparable with those of the heterozygotes. A negative correlation appeared to exist between the level of residual enzyme activity and the pre‐treatment severity of clinical symptoms.