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glutathione reductase deficiency

Epidemiology: - very rare Genetics: - autosomal recessive - defects in glutathione reductase gene Clinical manifestations: - favism - severe neonatal jaundice - hemolytic anemia - cataracts may also be present Laboratory: - glutathione reductase in erythrocytes Management: - avoid oxidative drugs & fava beans - similar to G6PD deficiency - see pharmaceuticals associated with G6PD hemolytic anemia - blood transfuctions (packed RBC) may be necessary for hemololytic anemia

Related

glutathione reductase (GSR)

General

genetic disease enzyme deficiency

References

  1. OMIM :accession 138300
  2. Kamerbeek NM et al Molecular basis of glutathione reductase deficiency in human blood cells. Blood. 2007 Apr 15;109(8):3560-6. Epub 2006 Dec 21. PMID: 17185460
  3. European Network for Rare and Congenital Anaemias Glutathione reductase deficiency http://www.enerca.org/media/upload/pdf/glutathione_reductase_deficiency-gr_DOCUMENTS1_52.pdf