glutathione reductase deficiency
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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
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
More general terms
Additional terms
References
- ↑ OMIM https://mirror.omim.org/entry/138300
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/17185460
- ↑ European Network for Rare and Congenital Anaemias Glutathione reductase deficiency http://www.enerca.org/media/upload/pdf/glutathione_reductase_deficiency-gr_DOCUMENTS1_52.pdf