Porphyria

The porphyrias comprise of at least eight metabolic disorders that are caused by the body’s inability to complete one of the eight steps in creating a complex molecule called heme. Heme is essential for the transport of oxygen to cells in the body. There are two general categories of porphyrias, those that affect the skin and those that affect the nervous system (cutaneous and acute porphyrias). Each type of porphyria has very different symptoms and levels of severity, making the conditions very difficult to diagnose. Estimates around prevalence varied significantly depending on type, but generally fall anywhere from 1 in every 10,000 to less than 1 per every 1,000,000 births worldwide.