E Ristoff1, E Mayatepek, A Larsson. 1. Department of Pediatrics, Karolinska Institutet, Huddinge University Hospital, Stockholm, Sweden.
Abstract
OBJECTIVE: The objective was to determine the long-term clinical outcome and the effects of treatment of patients with glutathione synthetase (GS) deficiency (n = 28). METHODS: The diagnosis was based on demonstration of a marked decrease in GS activity in erythrocytes or cultured fibroblasts in all patients and was supported by finding a decrease in erythrocyte or fibroblast glutathione, presence of 5-oxoprolinuria, or both. The treatment varied but usually included correction of acidosis and supplementation with vitamins C and/or E. RESULTS: Sixteen patients were severely affected with neurologic symptoms such as seizures and psychomotor retardation; 7 had died at the time of the study. None of the severely affected patients had been treated with both vitamins C and E from the neonatal period. No significant difference was found in GS activity between patients with or without neurologic symptoms or in erythrocyte or fibroblast glutathione levels. Five patients had recurrent bacterial infections. CONCLUSION: On the basis of clinical symptoms, patients with GS deficiency can be classified into 3 phenotypes: mild, moderate, and severe. Our results indicate that early supplementation with vitamins C and E may improve the long-term clinical outcome.
OBJECTIVE: The objective was to determine the long-term clinical outcome and the effects of treatment of patients with glutathionesynthetase (GS) deficiency (n = 28). METHODS: The diagnosis was based on demonstration of a marked decrease in GS activity in erythrocytes or cultured fibroblasts in all patients and was supported by finding a decrease in erythrocyte or fibroblast glutathione, presence of 5-oxoprolinuria, or both. The treatment varied but usually included correction of acidosis and supplementation with vitamins C and/or E. RESULTS: Sixteen patients were severely affected with neurologic symptoms such as seizures and psychomotor retardation; 7 had died at the time of the study. None of the severely affected patients had been treated with both vitamins C and E from the neonatal period. No significant difference was found in GS activity between patients with or without neurologic symptoms or in erythrocyte or fibroblast glutathione levels. Five patients had recurrent bacterial infections. CONCLUSION: On the basis of clinical symptoms, patients with GS deficiency can be classified into 3 phenotypes: mild, moderate, and severe. Our results indicate that early supplementation with vitamins C and E may improve the long-term clinical outcome.
Authors: Carolina D Pederzolli; Angela M Sgaravatti; César A Braum; Cristina C Prestes; Giovanni K Zorzi; Mirian B Sgarbi; Angela T S Wyse; Clóvis M D Wannmacher; Moacir Wajner; Carlos S Dutra-Filho Journal: Metab Brain Dis Date: 2007-01-20 Impact factor: 3.584
Authors: Morten Scheibye-Knudsen; Evandro F Fang; Deborah L Croteau; David M Wilson; Vilhelm A Bohr Journal: Trends Cell Biol Date: 2014-12-11 Impact factor: 20.808