Catalog

Congenital erythropoietic porphyria

No MMS code

Link to WHO Definition

Congenital erythropoietic porphyria – http://id.who.int/icd/entity/1935084712

Congenital erythropoietic porphyria, or Günther disease, is a rare autosomal recessive disorder due to mutations in the gene encoding uroporphyrinogen III synthase. This results in the accumulation of abnormal porphyrins in erythrocytes and manifests as very severe and mutilating photosensitivity.