Chester porphyria: biochemical studies of a new form of acute porphyria

Lancet. 1985 Oct 12;2(8459):796-9. doi: 10.1016/s0140-6736(85)90793-7.

Abstract

A previously unrecognised form of acute porphyria has been identified in a large family in Chester, UK. Patients presented with attacks of neurovisceral dysfunction and none had experienced cutaneous photosensitivity. Biochemically, the excretion pattern of haem precursors varied between individuals; some had a pattern typical of acute intermittent porphyria, others showed that of variegate porphyria, and some had an intermediate pattern. Studies of the enzymes of haem biosynthesis in peripheral blood cells showed a dual enzyme deficiency, with reduced activity of both porphobilinogen deaminase, as seen in acute intermittent porphyria, and protoporphyrinogen oxidase, as seen in variegate porphyria. The genetic basis of this dual form of acute porphyria and its relation to the other acute porphyrias are not clear.

MeSH terms

  • 5-Aminolevulinate Synthetase / urine
  • Acute Disease
  • Adult
  • Coproporphyrins / metabolism
  • Erythrocytes / metabolism
  • Feces / metabolism
  • Female
  • Flavoproteins
  • Humans
  • Hydroxymethylbilane Synthase / urine
  • Male
  • Middle Aged
  • Mitochondrial Proteins
  • Oxidoreductases / blood
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Pedigree
  • Porphyrias / genetics*
  • Porphyrias / metabolism
  • Protoporphyrinogen Oxidase
  • Protoporphyrins / blood
  • Syndrome
  • Uroporphyrins / metabolism

Substances

  • Coproporphyrins
  • Flavoproteins
  • Mitochondrial Proteins
  • Protoporphyrins
  • Uroporphyrins
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • PPOX protein, human
  • Protoporphyrinogen Oxidase
  • 5-Aminolevulinate Synthetase
  • Hydroxymethylbilane Synthase