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Journal of Inherited Metabolic Disease

, Volume 4, Issue 1, pp 3–6 | Cite as

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

  • A. H. Bittles
  • N. A. J. Carson
Article

Abstract

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.

Keywords

Negative Correlation Control Subject Clinical Symptom Metabolic Disease Pyridoxine 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© MTP Press Limited 1981

Authors and Affiliations

  • A. H. Bittles
    • 1
  • N. A. J. Carson
    • 1
  1. 1.Department of Child HealthThe Queen's University of BelfastNorthern Ireland

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