Glutathione synthetase deficiency

Douglas J Lanska MD FAAN MS MSPH (Dr. Lanska of the University of Wisconsin School of Medicine and Public Health has no relevant financial relationships to disclose.)
Originally released August 4, 2003; last updated May 22, 2016; expires May 22, 2019

This article includes discussion of glutathione synthetase deficiency and 5-oxoprolinuria. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Historical note and terminology

Glutathione synthethase deficiency was first diagnosed in 1970 in a teenager with slowly progressive neurologic disorder and markedly elevated excretion of 5-oxoproline in the urine as well as a history of unexplained jaundice at birth and a history of chronic metabolic acidosis. Subsequently, newborns with hemolytic anemia and organic acidosis were recognized as having similar elevations in this urinary metabolite. The identification of reduced cellular glutathione levels and deficient glutathione synthetase activity established this disorder as a unique entity.

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