Glucose-6-phosphate dehydrogenase deficiency

Article Abstract:

Primaquine and related drugs were observed in the 1950s to result in hemolytic anemia in some people, primarily blacks. This observation led to the identification of genetic defects in the enzyme glucose-6-phosphate dehydrogenase (G6PD). Furthermore, G6PD deficiency has been found to be quite widespread, and affects many ethnic and racial groups in addition to blacks. Although a deficiency in G6PD occurs in all cells of an affected individual, red blood cells are the most affected, which may be due to the fact that red blood cells spend a relatively long mature life without a nucleus. Other mechanisms for enhanced red blood cell susceptibility have been proposed, however, including more rapid proteolytic degradation of mutant enzymes within these cells. G6PD deficiency is an X-linked disorder, and affects about 200 million people worldwide. There are many variations in mutations which result in a deficiency in G6PD. Some variants do not cause disease, and are therefore of greater interest to geneticists than to physicians. Of greater clinical importance is the class of mutations which result in sensitivity to stress, such as the stress resulting from drugs or infection. While it is often assumed that anemia after drug treatment is the most common cause of anemia relating to G6PD deficiency, in fact anemia after infection is probably the greatest clinical consequence of G6PD deficiency. Furthermore, since drugs are often given to treat infection, the medical literature has become cluttered with the erroneous attribution of anemia to specific drugs when in fact infection was almost certain to be the contributing factor. Curiously, while people who develop hemolytic anemia after eating fava beans invariably share this mutant G6PD gene, the majority of patients with this enzyme deficiency are not susceptible to the effects of the bean. The majority of individuals with these mutations will go through their lives without experiencing ill effects. However, there are some variants of G6PD deficiency in which the enzyme is so badly affected that the patients have nonspherocytic hemolytic anemia; the life of the red blood cells is just too short, even in the absence of drugs or infection. The authors review the physiological characteristics of these various mutants and discuss the molecular basis of the defects. (Consumer Summary produced by Reliance Medical Information, Inc.)

Physiological aspects, Genetic aspects, Hemolytic anemia, Metabolism, Inborn errors of, Inborn errors of metabolism, Primaquine, Glucose-6-phosphate dehydrogenase deficiency

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Pulmonary hypertension developing after aglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome

Article Abstract:

It may be advisable to test lung vessel pressures in patients treated for Gaucher disease. Two patients with Gaucher disease were successfully treated with alglucerase therapy but later developed high blood pressure in their lung arteries. These abnormalities were first suspected after a routine chest X-ray. There was, however, no evidence of characteristic Gaucher cells in lung tissue samples. It is unclear why these patients developed high blood pressure in their lung arteries after treatment.

Causes of, Complications and side effects, Enzymes, Pulmonary hypertension, Gaucher's disease

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