See Also: glutathione synthetase deficiency(medicine)
Glutathione synthetase(medicine)
carbamoylphosphate synthetase deficiency(medicine)
Herbal medicine (botanical medicine, herbology, phytomedicine)(health)
Glutathione(medicine)
glutathione(dictionary)
Glutathione reductase(medicine)
oxidised glutathione(medicine)
glutathione transferase(medicine)
reduced glutathione(medicine)

glutathione synthetase deficiency (medicine)


glutathione synthetase deficiency


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 haemolysis, and defective central nervous systems function. Glutathione synthetase deficiency has been reported as a generalised condition or with a deficiency restricted to erythrocytes.