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Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, it is usually is short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD-deficient ...
G6PD reduces NADP + to NADPH while oxidizing glucose-6-phosphate. [2] Glucose-6-phosphate dehydrogenase is also an enzyme in the Entner–Doudoroff pathway, a type of glycolysis. Clinically, an X-linked genetic deficiency of G6PD makes a human prone to non-immune hemolytic anemia. [3]
Many patients with 6-phosphogluconate dehydrogenase deficiency are carriers and have no symptoms. It has been discovered that symptoms manifest more frequently in female carriers. Depending on how severe the deficiency is, it has been demonstrated that enzyme activity is reduced by 35–65%. [citation needed]
G6PD deficiency by itself is usually asymptomatic, but when combined with external stress such as an infection, fava beans, or oxidative drugs like primaquine. [ 25 ] Primaquine and tafenoquine can pass through the placenta, causing hemolytic anemia in utero if the fetus has G6PD deficiency.
G6PD deficieny is much more common than favism, and equating the two is being needlessly alarmist. The Al-Ali article (HTML version) is only used as a specific example, not a authoritative reference. It describes a small study of over 757 Saudi men. Over 42% of them tested positive for G6PD deficiency, but none of them reported symptoms of favism.
The syndrome cannot cause severe indirect hyperbilirubinemia in neonates by itself, but it may have a summative effect on rising bilirubin when combined with other factors, [10] for example in the presence of increased red blood cell destruction due to diseases such as G6PD deficiency.
The differential diagnosis list includes glycogenoses types III and VI, fructose 1,6-bisphosphatase deficiency, and a few other conditions (page 5) [citation needed], but none are likely to produce all of the features of GSD I. The next step is usually a carefully monitored fast. Hypoglycemia often occurs within six hours.
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