Glutathione Reductase Deficiency

From Anvita Health Wiki

Contents 1 Epidemiology 2 Genetics 3 Clinical-manifestations 4 Laboratory 5 Management 6 More General Terms 7 Additional Terms 8 References

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

More General Terms

• genetic disease
• enzyme deficiency

Additional Terms

• glutathione reductase (GSR)

References

1. OMIM [1]
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: [2]
3. European Network for Rare and Congenital Anaemias Glutathione reductase deficiency [3]

glutathione reductase deficiency