glutathione synthetase deficiency


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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.
References in periodicals archive ?
Glutathione synthetase deficiency and other disorder of the -glutamyl cycle.
A chromatogram from a subject with suspect glutathione synthetase deficiency is shown in Fig.
Two rare genetic diseases of the [gamma]-glutamyl cycle, glutathione synthetase deficiency and 5-oxoprolinase deficiency, that have been described lead to the accumulation of 5-oxoproline in plasma and urine (3).
Two genetic deficiencies of the [gamma]-glutamyl cycle, glutathione synthetase deficiency and 5-oxoprolinase deficiency (3), lead to very large increases in 5-oxoproline excretion.
This mechanism is similar to that proposed to account for the excessive production of L-5-oxoproline in glutathione synthetase deficiency (3,21) and the resulting HAGMA seen in these subjects.
The only main abnormality evident in affected individuals is increased concentrations of 5-oxoproline, which are not so great as those found in cases of glutathione synthetase deficiency and characteristically do not result in major metabolic acidosis.