This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

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:


Create an account to add page annotations

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.