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Tyrosinaemia type 1 and glutathione synthetase deficiency : two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency
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Lloyd, Adrian J., Gray, R. G. and Green, A (1994) Tyrosinaemia type 1 and glutathione synthetase deficiency : two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency. Journal of Inherited Metabolic Disease, 18 (1). pp. 48-55. doi:10.1007/BF00711372 ISSN 0141-8955.
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Official URL: https://doi.org/10.1007/BF00711372
Abstract
Thiol groups are important components of proteins and their oxidation can lead to a substantial loss of protein function. Patients with two apparently unrelated inborn errors of metabolism, tyrosinaemia type 1 and glutathione synthetase deficiency, have been reported to show reduced cell glutathione concentrations. We have found that not only glutathione but also protein thiol concentrations are reduced in the liver in tyrosinaemia type 1 patients. We also report a case of glutathione synthetase deficiency with a substantial deficiency of liver 4-fumarylacetoacetate hydrolase and provide evidence that glutathione, or some small-molecular-weight thiol, is essential for maintaining stability of this enzyme in vitro. Our results suggest that the availability of thiol groups may modify the phenotype of tyrosinaemia type 1 and that liver 4-fumarylacetoacetate hydrolase deficiency may be a secondary complicating factor in some forms of glutathione synthetase deficiency.
| Item Type: | Journal Article | ||||||
|---|---|---|---|---|---|---|---|
| Divisions: | Faculty of Science, Engineering and Medicine > Science > Life Sciences (2010- ) | ||||||
| Journal or Publication Title: | Journal of Inherited Metabolic Disease | ||||||
| Publisher: | Springer Nature | ||||||
| ISSN: | 0141-8955 | ||||||
| Official Date: | 20 June 1994 | ||||||
| Dates: |
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| Volume: | 18 | ||||||
| Number: | 1 | ||||||
| Page Range: | pp. 48-55 | ||||||
| DOI: | 10.1007/BF00711372 | ||||||
| Status: | Peer Reviewed | ||||||
| Publication Status: | Published | ||||||
| Access rights to Published version: | Restricted or Subscription Access |
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