Page 1 of 1: G6PD Deficiency

USMLE7 · Credits: 78284 My Scrapbook My Reading List 262569 Books

G6PD catalyzes the creation of NADPH from the hexose monophosphate pathway. The NADPH is then used to reduce glutathione and in conjunction with glutathione reductase reduce cellular oxidative damage. G6PD enzyme deficiency, caused by mutations in the X-linked (Xq28) G6PD gene, affects half a billion people worldwide. The various mutations lead to an altered expression or half-life of the G6PD. At least 400 G6PD variants have been identified and this is an allelically homogenous but genetically heterogeneous condition. There are a number of disease manifestations:

-patients may be asymptomatic

-patients may present with neonatal jaundice

-usually the deficiency manifests as haemolytic crises provoked by oxidising stress e.g. certain drugs (sulphonamides, nitrofurantoin); foods typically the fava bean; chemicals e.g. naphthalene and infections. Haemolytic crises vary in severity.

-rarely chronic haemolysis may occur.

If severe, G6PD deficiency can cause immunodeficiency due to lack of NADPH which is needed for activation of the NADPH oxidase enzyme (cf. CGD).

padmaja · Credits: 78284 My Scrapbook My Reading List 262569 Books

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