Gluthathione synthetase deficiency

5-Oxoprolinuria, Pyroglutamic acidemia, 5-OXO, Pyroglutamic aciduria


Type of disease: Rare conditions

Glutathione synthetase deficiency is type of organic acidemia that affects the production glutathione. Glutathione helps prevent cell damage, build DNA and proteins, and process medications and cancer-causing compounds. People can have mild, moderate, or severe disease. Mild disease may cause hemolytic anemia and 5-oxoprolinuria (excess excretion of 5-oxoproline in urine). Moderate disease may cause anemia, 5-oxoprolinuria, and metabolic acidosis in early infancy. Severe disease may cause anemia, 5-oxoprolinuria, metabolic acidosis, neurological symptoms (e.g., seizures, learning disability, loss of coordination), and recurrent infections. It is caused by mutations in the GSS gene and is inherited in an autosomal recessive fashion. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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