Research Article

Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies.

Br Med J 1975; 3 doi: http://dx.doi.org/10.1136/bmj.3.5984.621 (Published 13 September 1975) Cite this as: Br Med J 1975;3:621
  1. R W Pain,
  2. F W Welch,
  3. A J Woodroffe,
  4. D A Handley,
  5. W H Lockwood

    Abstract

    Erythropoietic uroporphyria of Gunther was seen in a 58-year-old man who presented with photosensitivity, haemolytic anaemia, and classical laboratory findings. Family studies showed five asymptomatic relatives with erythrocyte uroporphyrin concentrations in the probable latent heterozygote range.