People living with a porphyria have changes to certain genes, called mutations, which affect their body’s ability to regulate itself.
In the porphyrias, these mutations are in the genes involved in a certain chemical pathway, called the heme pathway. Heme is a compound that the body needs to make hemoglobin and there are several steps to make this compound in the body. Each type of porphyria is caused by a defect in a specific protein (enzyme) in the heme pathway. Without these enzymes working properly, the body is not able to finish making heme and it causes a buildup of other compounds, called porphyrins. It is the buildup of different types of porphyrins that causes the different types of porphyria and associated symptoms.