QUICKmedicine app

Gunther's disease
You have 3 open access pages left.
UK healthcare workers and students can get FREE subscriptions... click here.


Congenital erythropoietic porphyria is one of the most rare inborn errors of metabolism and is caused by reduced activity in uroporphyrinogen cosynthetase located on chromosome 10q26. It is inherited as an autosomal-recessive trait (1).

It is characterised by vastly increased amounts of uroporphyrin in bone marrow, circulating erythrocytes, plasma, faeces and urine. Lesser amounts of corproporphyrin are found in the faeces but other pyrroles are excreted normally. Sufferers become disfigured, hairy and anaemic, and owing to extreme photosensitivity, tend to avoid sunlight.

Click here for an example image of this condition