Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family

J Inherit Metab Dis. 2005;28(5):779-85. doi: 10.1007/s10545-005-0092-z.


Hereditary coproporphyria (HCP) is the least common of the three autosomal dominant acute porphyrias. To compare the sensitivity of metabolite measurements for the identification of asymptomatic HCP, we carried out a molecular and biochemical investigation of a large family in which HCP is caused by a previously unreported frameshift mutation (c.119delA). Thirteen of 19 asymptomatic family members, aged 10-72 years, were shown by mutational analysis to have HCP. The faecal coproporphyrin isomer III:I ratio was increased in all of these 13 family members; faecal total porphyrin concentration and urinary porphyrin excretion were increased in 11 and 8 of them, respectively. Plasma porphyrin concentrations were marginally increased in three individuals and plasma fluorescence emission scanning showed a porphyrin peak at 618 nm in two of these. Our results add to the evidence that an increased faecal porphyrin coproporphyrin III:I ratio is a highly sensitive test for the detection of clinically latent HCP in individuals over the age of 10 years; its sensitivity below this age remains uncertain. They also show that plasma fluorescence emission scanning is not useful for the investigation of families with HCP.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Coproporphyria, Hereditary / blood
  • Coproporphyria, Hereditary / diagnosis
  • Coproporphyria, Hereditary / genetics*
  • DNA Mutational Analysis
  • Family Health
  • Feces
  • Female
  • Frameshift Mutation
  • Heme / chemistry
  • Humans
  • Infant, Newborn
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Porphyrins / metabolism
  • Sequence Analysis, DNA


  • Porphyrins
  • Heme