Heme biosynthesis in intermittent acute prophyria: decreased hepatic conversion of porphobilinogen to porphyrins and increased delta aminolevulinic acid synthetase activity

Proc Natl Acad Sci U S A. 1970 Nov;67(3):1315-20. doi: 10.1073/pnas.67.3.1315.

Abstract

Hepatic conversion of porphobilinogen to porphyrins was less than 50% of control levels in human subjects with the genetic disease, intermittent acute porphyria. This relative block in heme biosynthesis may be relevant to a concomitant 6- to 10-fold elevation in delta-aminolevulinic acid synthetase activity, since this first and rate-controlling enzyme in the biosynthetic pathway is subject to negative feedback regulation by the end product, heme. A micro-radio-chemical assay of delta-aminolevulinic acid synthetase, and some of its applications, are described.

MeSH terms

  • Acyltransferases / metabolism*
  • Animals
  • Carbon Isotopes
  • Culture Techniques
  • Erythrocytes / metabolism
  • Heme / biosynthesis*
  • Humans
  • Levulinic Acids
  • Liver / enzymology*
  • Mice
  • Porphyrias / enzymology*
  • Porphyrins
  • Succinates

Substances

  • Carbon Isotopes
  • Levulinic Acids
  • Porphyrins
  • Succinates
  • Heme
  • Acyltransferases