Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation

The case of acute coproporphyria in a 13 years old female, who presented with neuropsychiatric symptoms (visual hallucinations and peripheral neuropathy) and abdominal pain has previously been described. We report an Irish kindred of 8 additional patients with previously undiagnosed hereditary coproporphyria, who were defined following studies of the family of the index case.