6-Phosphogluconolactonase deficiency, a hereditary erythrocyte enzyme deficiency: possible interaction with glucose-6-phosphate dehydrogenase deficiency.

Abstract

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.

• Authors: E Beutler, W Kuhl, T Gelbart
• Journal: Proceedings of the National Academy of Sciences of the United States of America (Proc Natl Acad Sci U S A) Vol. 82 Issue 11 Pg. 3876-8 (Jun 1985) ISSN: 0027-8424 [Print] United States
• PMID: 3858849 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Guanine Nucleotides
• Guanosine Diphosphate
• Carboxylic Ester Hydrolases
• 6-phosphogluconolactonase

Topics

• Anemia, Hemolytic (enzymology, genetics)
• Carboxylic Ester Hydrolases (deficiency)
• Erythrocytes (enzymology)
• Female
• Guanine Nucleotides (deficiency)
• Guanosine Diphosphate (deficiency)
• Humans
• Male
• Pedigree
• Polymorphism, Genetic