A Glimpse of G6PD Deficiency
A Glimpse of G6PD Deficiency
by Super User
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The most common inborn metabolic disorder is Glucose-6-phosphate dehydrogenase (G6PD) deficiency. G6PD is an enzyme important to red blood cells. A deficiency in G6PD enzyme would result to the easy rupture of red blood cells under certain conditions.

G6PD deficiency is caused by a gene mutation in the X chromosome. This disorder is passed in an X-linked recessive pattern. Thus, those who express this are mostly males since they only have one X chromosome. Females have two X chromosomes. Thereby, it is unlikely to have this disorder unless both X chromosomes are defective.

For persons with G6PD deficiency, they appear healthy until they are exposed to oxidative substances found in certain drugs, food, cosmetics, infections, etc. Exposure to these can lead to hemolytic anemia which can lead to hemolytic crisis if not addressed immediately.

To date, there is still no absolute cure for G6PD deficiency. This can only be managed by educating the parents and the G6PD-deficient child on what drugs or food to avoid and keeping note of the signs and symptoms of hemolytic anemia

 
 

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