Literature DB >> 27040960

Glucose-6-Phosphate Dehydrogenase Deficiency.

Lucio Luzzatto1, Caterina Nannelli2, Rosario Notaro2.   

Abstract

G6PD is a housekeeping gene expressed in all cells. Glucose-6-phosphate dehydrogenase (G6PD) is part of the pentose phosphate pathway, and its main physiologic role is to provide NADPH. G6PD deficiency, one of the commonest inherited enzyme abnormalities in humans, arises through one of many possible mutations, most of which reduce the stability of the enzyme and its level as red cells age. G6PD-deficient persons are mostly asymptomatic, but they can develop severe jaundice during the neonatal period and acute hemolytic anemia when they ingest fava beans or when they are exposed to certain infections or drugs. G6PD deficiency is a global health issue.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Favism; Glucose-6-phosphate dehydrogenase; Hemolytic anemia; Malaria selection; X-linked genetic polymorphism

Mesh:

Substances:

Year:  2016        PMID: 27040960     DOI: 10.1016/j.hoc.2015.11.006

Source DB:  PubMed          Journal:  Hematol Oncol Clin North Am        ISSN: 0889-8588            Impact factor:   3.722


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