This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Go to /pro/cpd-dashboard page

This page is worth 0.05 CPD credits. CPD dashboard

Go to /account/subscription-details page

This page is worth 0.05 CPD credits. Upgrade to Pro

Congenital erythropoietic porphyria

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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

Reference:


Related pages

Create an account to add page annotations

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.