6-Phosphogluconolactonase deficiency, a hereditary erythrocyte enzyme deficiency: possible interaction with glucose-6-phosphate dehydrogenase deficiency.
Partial deficiency of 6-phosphogluconolactonase (EC 3.1.1.31) of the erythrocytes was discovered as an autosomal dominant disorder. Hemolytic anemia occurred in an individual who had inherited both the gene for 6-phosphogluconolactonase deficiency and that for deficiency of a nonhemolytic variant of glucose-6-phosphate dehydrogenase (EC 1.1.1.49). It is proposed that the interaction of this hereditary erythrocyte abnormality with glucose-6-phosphate dehydrogenase deficiency may explain hemolysis in some other patients who have inherited polymorphic variants of glucose-6-phosphate dehydrogenase.
D000743:Anemia, Hemolytic / Q000201:enzymology / Q000235:genetics; D002265:Carboxylic Ester Hydrolases / Q000172:deficiency*; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006150:Guanine Nucleotides / Q000172:deficiency*; D006153:Guanosine Diphosphate / Q000172:deficiency*; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic
D006150:Guanine Nucleotides; D006153:Guanosine Diphosphate; D002265:Carboxylic Ester Hydrolases; C022363:6-phosphogluconolactonase