doi: 10.1007/BF02263573.
Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts
- PMID: 6785521
- DOI: 10.1007/BF02263573
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Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts
J Inherit Metab Dis.
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.
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