Article
G6PD Potenza: A Novel Pathogenic Variant Broadening the Mutational Landscape in the Italian Population.
Genes - 4 Oct 2024
Ricciardi Tenore Claudio, Tulli Eugenia, Calò Claudia, Bertozzi Roberto, Evangelista Jessica, Maneri Giulia, Rinelli Martina, Brisighelli Francesca, Perrucci Alessia, De Paolis Elisa, Urbani Andrea, De Bonis Maria, Minucci Angelo
Abstract excerpt
Background: Glucose 6 phosphate dehydrogenase (G6PD) is a rate-limiting enzyme of the pentose phosphate pathway. The loss of G6PD activity in red blood cells increases the risk of acute haemolytic anaemia under oxidative stress induced by infections, some medications, or fava beans. More than 200 single missense mutations are known in the G6PD gene. A 41-year-old woman with a family history of favism coming from...
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