Hydroxyprolinemia as an Illustration of Nonessential Enzymes in Man
- 27 August 1970
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 283 (9) , 487
- https://doi.org/10.1056/nejm197008272830912
Abstract
The report on hydroxyprolinemia in the present issue of the Journal (page 451) dramatically illustrates an interesting error that most of us are inclined to commit in thinking about genetic defects in man. The biochemical work of the past several decades has convinced us all of the critical role of enzymes in making life possible. Also, we have been amply impressed by the devastating effects produced in man by the absence of a single enzyme such as the deficiency of phenylalanine hydroxylase in phenylketonuria. Accordingly, when in 1962 Efron et al.1 found a young girl with mental deficiency who had . . .Keywords
This publication has 3 references indexed in Scilit:
- The intracellular biosynthesis of collagen. Some possible implications for diseases of bone and other connective tissuesArchives of internal medicine (1960), 1969
- Hydroxyprolinemia Associated with Mental DeficiencyNew England Journal of Medicine, 1962
- EXCRETION OF HYDROXYPROLINE IN PATIENTS WITH RHEUMATIC AND NON-RHEUMATIC DISEASES 1Journal of Clinical Investigation, 1956