The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes

• Published in: The Journal of clinical investigation Vol. 62; no. 5; pp. 907 - 915
• Main Authors: Rosa, R, Prehu, M O, Beuzard, Y, Rosa, J
• Format: Journal Article
• Language: English
• Published: United States 01.11.1978
• Subjects: Adult; Bisphosphoglycerate Mutase - deficiency; Diphosphoglyceric Acids - blood; Erythrocytes - enzymology; Hot Temperature; Humans; Inosine - blood; Male; Oxygen - blood; Pedigree; Phosphates - blood; Phosphotransferases - deficiency; Protein Denaturation; Pyruvates - blood
• ISSN: 0021-9738
• DOI: 10.1172/JCI109218

An inherited and complete deficiency of diphosphoglycerate mutase was discovered in the erythrocytes of a 42-yr-old man of French origin whose blood hemoglobin concentration was 19.0 g/dl. Upon physical examination he was normal with the exception of a ruddy cyanosis. The morphology of his erythrocytes was also normal and there was no evidence of hemolysis. The erythrocyte 2,3-diphosphoglycerate level was below 3% of normal values and, as a consequence, the affinity of the cells for oxygen was increased. Diphosphoglycerate mutase activity was undetectable in erythrocytes as was that of diphosphoglycerate phosphatase. The activities of all the other erythrocyte enzymes that were tested were normal except for nomophosphoglycerate mutase which was diminished to 50% of the normal value. The levels of reduced glutathione, ATP, fructose 1,6-diphosphate, and of triose phosphates were elevated, whereas those of glucose 6-phosphate and fructose 6-phosphate were decreased. This report sheds new light on the role of diphosphoglycerate mutase in the metabolism of erythrocytes.