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.

Farlex Partner Medical Dictionary © Farlex 2012

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.

Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

References in periodicals archive

Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with an autosomal recessive inheritance, which is caused by mutations in the GSS gene (OMIM 601002) (1).

Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency. Clin Genet 1999; 55: 444-449, doi: 10.1034/ j.1399-0004.1999.550608.x.

Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency. J Inherit Metab Dis 2005; 28: 1153-1154, doi: 10.1007/s10545-005-0156-0.

Diagnosis of glutathione synthetase deficiency in newborn screening.

Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency. Fetal Pediatr Pathol 2015; 34: 18-20, doi: 10.3109/15513815.2014.

Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency. J AAPOS 2015; 19: 80-82, doi: 10.1016/j.jaapos.2014.09.014.

Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency. J Pediatr Endocrinol Metab 2016; 29: 481-485, doi: 10.1515/jpem-2015-0308.

A case of severe glutathione synthetase deficiency with novel GSS mutations

Glutathione synthetase deficiency and other disorder of the -glutamyl cycle.

Study of plasma and cytosolic glutathione in cadmium toxicity

A chromatogram from a subject with suspect glutathione synthetase deficiency is shown in Fig.

Glutathione synthetase deficiency and other disorders of the g-glutamyl cycle.

Determination of blood total, reduced, and oxidized glutathione in pediatric subjects

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.

Transient 5-oxoprolinuria and high anion gap metabolic acidosis: clinical and biochemical findings in eleven 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.

Transient 5-oxoprolinuria (pyroglutamic aciduria) with systemic acidosis in an adult receiving antibiotic therapy