Hydroxyprolinemia as an illustration of nonessential enzymes in man. Academic Article uri icon

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. 1970, Massachusetts Medical Society. All rights reserved.

published proceedings

  • N Engl J Med

author list (cited authors)

  • Prockop, D. J.

citation count

  • 3

complete list of authors

  • Prockop, DJ

publication date

  • August 1970