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


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.


Negative Correlation Control Subject Clinical Symptom Metabolic Disease Pyridoxine 
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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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