glutathione synthetase deficiency

(redirected from Pyroglutamic aciduria)

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 ?
Transient 5-oxoprolinuria (pyroglutamic aciduria) with systemic acidosis has been reported in an adult receiving antibiotic therapy (12).
Transient 5-oxoprolinuria (pyroglutamic aciduria) with systemic acidosis in an adult receiving antibiotic therapy.
Urinary excretion of 5-oxoproline (pyroglutamic aciduria) as an index of glycine insufficiency in normal man.
The presence or absence of ketonuria associated with metabolic acidosis is the major clinical key to the diagnosis; when metabolic acidosis occurs with an anion gap within reference values and without hyperlacticacidemia or hypoglycemia, pyroglutamic aciduria is rarely diagnosed (1 case in 3 years from 1000 children) (6), and it may show early in life with constant, isolated metabolic acidosis.
Pathological samples corresponded to methylmalonic, glutaric, and pyroglutamic acidurias. Before analysis, samples were diluted with water (1 volume of sample plus 2 volumes of water) and centrifuged for 3 min at 20008.
Atypical pyroglutamic aciduria: possible role of paracetamol.
Pyroglutamic aciduria in propionyl CoA carboxylase deficiency.
5-Oxoprolinuria (pyroglutamic aciduria) is a condition characterized by increased production and urinary excretion of 5-oxoproline.