Enzyme abnormalities in the porphyrias.

Lancet (London, England) ·Vol. 2 ·No. 8040 ·1977-10-01 ·Pages 699-701

Brodie MJ, Moore MR, Goldberg A

Abstract

Evidence is presented that each of the porphyrias represents a different inborn error of metabolism in haem biosynthesis. Control of the pathway takes place by feedback repression and inhibition by haem of delta-aminolaevulinic-acid synthase. It is suggested that insituations where the activity of this enzyme is derepressed, prophobilinogen deaminase represents a secondary control step.

MeSH Terms

5-Aminolevulinate Synthetase/deficiency,metabolism Acute Disease Ammonia-Lyases/metabolism Chronic Disease Clinical Enzyme Tests Coproporphyrinogen Oxidase/metabolism Ferrochelatase/metabolism Heme/biosynthesis Humans Hydroxymethylbilane Synthase/metabolism Leukocytes/enzymology Models, Biological Porphobilinogen Synthase/metabolism Porphyrias/classification,enzymology,etiology Porphyrins/metabolism Uroporphyrinogen Decarboxylase/metabolism

Chemicals

Porphyrins Heme Coproporphyrinogen Oxidase 5-Aminolevulinate Synthetase Hydroxymethylbilane Synthase Uroporphyrinogen Decarboxylase Porphobilinogen Synthase Ammonia-Lyases Ferrochelatase

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Brodie M J

Moore M R

Goldberg A

Article Info

Journal

Lancet (London, England)

Abbr.

Lancet

ISSN

0140-6736

DOI

10.1016/s0140-6736(77)90507-4

Published

1977-10-01

Pages

699-701

Language

English

Region

England

NLM ID

2985213R

Subset

External Links

PubMed source DOI: 10.1016/s0140-6736(77)90507-4 View journal details

Analysis Services

Enzyme abnormalities in the porphyrias.

Contact

WeChat Official Account