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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
Author(s) -
Lloyd A. J.,
Gray R. G. F.,
Green A.
Publication year - 1995
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711372
Subject(s) - glutathione , thiol , chemistry , biochemistry , endocrinology , medicine , enzyme , biology
Summary 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.