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Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with an autosomal recessive inheritance, which is caused by mutations in the GSS gene (OMIM 601002) (1).
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency. Clin Genet 1999; 55: 444-449, doi: 10.1034/ j.1399-0004.1999.550608.x.
Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency. J Inherit Metab Dis 2005; 28: 1153-1154, doi: 10.1007/s10545-005-0156-0.
Diagnosis of glutathione synthetase deficiency in newborn screening.
Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency. Fetal Pediatr Pathol 2015; 34: 18-20, doi: 10.3109/15513815.2014.
Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency. J AAPOS 2015; 19: 80-82, doi: 10.1016/j.jaapos.2014.09.014.
Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency. J Pediatr Endocrinol Metab 2016; 29: 481-485, doi: 10.1515/jpem-2015-0308.
Glutathione synthetase deficiency and other disorder of the -glutamyl cycle.
A chromatogram from a subject with suspect glutathione synthetase deficiency is shown in Fig.
Glutathione synthetase deficiency and other disorders of the g-glutamyl cycle.
Two genetic deficiencies of the [gamma]-glutamyl cycle, glutathione synthetase deficiency and 5-oxoprolinase deficiency (3), lead to very large increases in 5-oxoproline excretion.
The only main abnormality evident in affected individuals is increased concentrations of 5-oxoproline, which are not so great as those found in cases of glutathione synthetase deficiency and characteristically do not result in major metabolic acidosis.