Deficiency of glutathione synthase | definition of Deficiency of glutathione synthase by Medical dictionary
glutathione synthetase deficiency (redirected from Deficiency of glutathione synthase)
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.