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Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts

Bittles, A.H. and Carson, N.A. (1981) Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts. Journal of Inherited Metabolic Disease, 4 (1). pp. 3-6.

Link to Published Version: http://dx.doi.org/10.1007/BF02263573
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Abstract

Cystathionine beta-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 beta-synthase activity was confirmed in nine of the homocystinuric cultures. However, in one pyridoxine responsive case the level of cystathionine beta-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.

Publication Type: Journal Article
Publisher: Kluwer Academic Publishers
URI: http://researchrepository.murdoch.edu.au/id/eprint/12487
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