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.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Atwal PS,Medina CR,Burrage LC,Sutton VRdoi
10.1038/jhg.2016.20subject
Has Abstractpub_date
2016-07-01 00:00:00pages
669-72issue
7eissn
1434-5161issn
1435-232Xpii
jhg201620journal_volume
61pub_type
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