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J Hum Genet. 2016 Jul;61(7):669-72. doi: 10.1038/jhg.2016.20. Epub 2016 Mar 17.

Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.

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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA.


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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