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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