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Introduction Do you feel exhausted, overwhelmed, and run down
G6PD gene is on the X chromosome: Males can be G6PD normal or deficient Females can be G6PD normal, intermediate (heterozygous) or deficient (homozygous) In heterozygous females, X-inactivation causes variability of G6PD activity from cell to cell and therefore variability in clinical presentation, especially if inactivation is skewed Around 140 mutations of G6PD gene are known and almost all are missense point mutations (one amino acid is changed in the G6PD protein from the wild type form, G6PD B ) The mutations usually decreases stability of G6PD (results in less enzyme present) but can also acts qualitatively to change enzyme catalysis or substrate affinity The two most common, polymorphic variants of G6PD deficiency are: G6PD Mediterranean (severe, Class II) G6PD A- (African descent, moderate, Class III) Chronic nonspherocytic hemolytic anemia (CNHA) is caused by a very small subset of the G6PD mutations which cause a more severe phenotype due to very low G6PD activity G6PD deficiency is most common in people of tropical and subtropical areas and there is support to show that this is due to a conferred resistance against Plasmodium falciparum infection, which causes malaria Physiology and pathophysiology Voet Biochemistry pg
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Curiosities for L-Glutathione L-Glutathione is a dietary supplement of reduced L-glutathione, a compound derived from the amino acids glycine, cysteine and glutamic acid, naturally produced by the body
