glutathione synthetase deficiency

glu·ta·thi·one syn·the·tase de·fi·cien·cy

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.

glutathione synthetase deficiency

A rare autosomal recessive inborn error of metabolism dur to a mutation in the gene for glutathione synthetase. There are low levels of GLUTATHIONE, raised blood acidity, a tendency to red cell breakdown (haemolysis) and excretion of large quantities of 5-oxoproline in the urine. 5-oxoproline is a stage in the gamma-glutamyl cycle by which amino acids are transported. The antioxidant vitamin E has been used to treat cases.