Red-Cell Phosphofructokinase Deficiency
- 31 October 1974
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 291 (18) , 978-979
- https://doi.org/10.1056/nejm197410312911819
Abstract
To the Editor: A routine exploration of red-cell enzyme activities in a blood-bank donor of Hôpital Saint-Louis provided evidence of a new case of red-cell phosphofructokinase deficiency (PFK)(ATP:d-fructose-6-phosphate-I-phosphotransferase-E. C. 2. 7. I. II.). Except for a permanent "suntan"-like complexion, physical examination was negative, and the patient stated that he had never seen a doctor in his life before. The activity of the patient's red-cell PFK was 3.49 IU per gram of hemoglobin (mean of three assays) according to the technic of Beutler1 (normal value, 12.60 ± 1.60). Other red-cell enzymes were within the normal range, including glucose-6-phosphate dehydrogenase, 6-phosphogluconate dehydrogenase, . . .Keywords
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