An Overview of the Most Common Enzyme Defect, Glucose-6-Phosphate-Dehydrogenase Deficiency
Journal Title: The Egyptian Journal of Hospital Medicine - Year 2018, Vol 70, Issue 1
Abstract
Background: Glucose-6-Phosphate-Dehydrogenase (G6PD) deficiency is the most common enzyme deficiency globally and is more remarkable in certain parts of the world which had high malaria prevalence in the past. It is an X-linked genetically inherited disorder, where the first presentation can be neonatal jaundice. There are over 300 variants of this disorder based upon the genetics. Although the morbidity and mortality is not very high, the deficiency can be more appropriately managed by proper preventive methods which include screening and avoidance of trigger. Also prompt management of acute hemolysis can save a child from many complications.
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