Beatriz Hernández-Ochoa, Daniel Ortega-Cuellar, Abigail González-Valdez, Víctor Martínez-Rosas, Laura Morales-Luna, Miriam Abigail Rojas-Alarcón, Montserrat Vázquez-Bautista, Roberto Arreguin-Espinosa, Verónica Pérez de la Cruz, Rosa Angélica Castillo-Rodríguez, Luis Miguel Canseco-Ávila, Abraham Vidal-Limón, Saúl Gómez-Manzo
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, affecting an estimated 500 million people worldwide, is a genetic disorder that causes human enzymopathies. Biochemical and genetic studies have identified several variants that produce different ranges of phenotypes; thus, depending on its severity, this enzymopathy is classified from the mildest (Class IV) to the most severe (Class I). Therefore, understanding the correlation between the mutation sites of G6PD and the resulting phenotype greatly enhances the current knowledge of enzymopathies' phenotypic and genotypic heterogeneity, which will assist both clinical diagnoses and personalized treatments for patients with G6PD deficiency...
August 11, 2023: International Journal of Molecular Sciences