Abstract
Glutathione synthetase deficiency is a rare autosomal recessive disorder resulting in low levels of glutathione and an increased susceptibility to oxidative stress. Patients with glutathione synthetase deficiency typically present in the neonatal period with hemolytic anemia, metabolic acidosis and neurological impairment. Lifelong treatment with antioxidants has been recommended in an attempt to prevent morbidity and mortality associated with the disorder. Here, we present a 19-year-old female who was diagnosed with glutathione synthetase deficiency shortly after birth and who has been closely followed in our metabolic clinic. Despite an initial severe presentation, she has had normal intellectual development and few complications of her disorder with a treatment regimen that includes polycitra (citric acid, potassium citrate and sodium citrate), vitamin C, vitamin E and selenium.
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Acknowledgements
PSA is supported by the American College of Medical Genetics Foundation/Genzyme 2014-2015 Fellowship in Biochemical Genetics. LCB is supported by a fellowship from the National Urea Cycle Disorders Foundation, a fellowship from the Urea Cycle Disorders Consortium (UCDC; U54HD061221), which is a part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN), supported through collaboration between the Office of Rare Diseases Research (ORDR), the National Center for Advancing Translational Science (NCATS) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and NIH K08DK106453.
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Atwal, P., Medina, C., Burrage, L. et al. Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency. J Hum Genet 61, 669–672 (2016). https://doi.org/10.1038/jhg.2016.20
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DOI: https://doi.org/10.1038/jhg.2016.20
