glutathione synthetase deficiency
Definition: an inborn error of metabolism associated with massive urinary excretion of 5-oxyproline, elevated levels of 5-oxyproline in the blood and cerebrospinal fluid, severe metabolic acidosis, tendency toward hemolysis, and defective central nervous systems function. Glutathione synthetase deficiency has been reported as a generalized condition or with a deficiency restricted to erythrocytes.
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