XClose

UCL Queen Square Institute of Neurology

Home
Menu

Porphyria

Medline NLM definition of Porphyria: A group of disorders characterized by the excessive production of porphyrins or their precursors that arises from abnormalities in the regulation of the porphyrin-heme pathway. The porphyrias are usually divided into three broad groups, erythropoietic (PORPHYRIA, ERYTHROPOIETIC), hepatic (PORPHYRIA, HEPATIC), and erythrohepatic (PORPHYRIA, ERYTHROHEPATIC), according to the major sites of abnormal porphyrin synthesis.

Porphyria: information from Patient UK website

Porphyria: information from NORD, the National Organization for Rare Disorders (US site)

PubMed Medline search on Porphyria

Support Groups

British Porphyria Association
This organisation tries to reach out to as many people as possible in order to improve understanding of the porphyrias, including patients and relatives, doctors and medical staff and hospitals and research establishments.

Cardiff Porphyria Service
The Cardiff Porphyria Service specialises in the diagnosis and treatment of the porphyrias in the UK. The Service provides a comprehensive porphyria service for both clinicians and their patients by offering: 

  • Multidisciplinary clinical advice
  • Routine laboratory diagnosis
  • Genetic mutation analysis
  • Safe drug information (in conjunction with the Welsh Medicines Information Service, WMIC)
  • Genetic counselling (in conjunction with Medical genetics) 
The service also initiates and participates in research into the porphyrias and has strong collaborative links with their European colleagues.
 

Brain and Spine Foundation
Information on living with a neurological condition and on diagnosis. There are publications and resources. The useful glossary of neurological conditions (under 'Information and support') includes links to some other organisations as well as to Brain and Spine Foundation information.

Healthtalk: nerves and brain
Personal experiences of people living with various neurological conditions.

Neurological Alliance
Collective voice for 80 organisations, including stroke and brain injury. Organisations are listed at https://www.neural.org.uk/our-members/, a good place to start if looking for information on those conditions. Site also includes information about living with a neurological condition, a glossary, and information about onset and diagnosis as well as a small set of real life stories.

NHS Inform: brain, nerves and spinal cord 
NHS inform is Scotland's national health information service, with the aim of providing the people in Scotland with accurate and relevant information to help them make informed decisions about their own health and the health of the people they care for.

disclaimer