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Gluthathione peroxidase deficiency

Synonyms
Glutathione peroxidase deficiency

Summary

Several documented cases of glutathione peroxidase (GPX1; 138320) deficiency in association with hemolytic anemia have been reported. However, Paglia (1989) stated: 'To date, no defects in glutathione peroxidase have been unequivocally incriminated in the pathogenesis of hemolytic syndromes, although several instances of partial deficiency have been reported in patients with anemias of unknown etiology. This association may be coincidental, since there is a broad range of ethnic variation in the erythrocyte enzyme' (Beutler and Matsumoto, 1975). [from OMIM]

Available tests

18 tests are in the database for this condition.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GPXD, GSHPX1, GPX1
    Summary: glutathione peroxidase 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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