Journal article
Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts
Journal of Inherited Metabolic Disease, Vol.4(1), pp.3-6
1981
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.
Details
- Title
- Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts
- Authors/Creators
- A.H. Bittles (Author/Creator)N.A. Carson (Author/Creator)
- Publication Details
- Journal of Inherited Metabolic Disease, Vol.4(1), pp.3-6
- Publisher
- Kluwer Academic Publishers
- Identifiers
- 991005541200807891
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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