E80: Disorders of porphyrin and bilirubin metabolism
E80.0: Hereditary erythropoietic porphyria
In the body, certain proteins ensure that processes run better or more quickly. These proteins are also known as enzymes. Porphyria is a disorder that involves certain enzymes not working properly. These enzymes normally ensure that the substance heme is formed. The substance heme has various tasks in the body. For example, heme is contained in the red blood pigment. The red blood pigment transports oxygen in the blood vessels to the organs. When heme is formed, various precursors are created. These precursors are called porphyrins.
With porphyria, the heme is not formed properly. If the heme is not formed properly, porphyrins will accumulate in the body. Porphyrins may also build up in the skin, for example.
When porphyrins build up in the skin, the skin reacts strongly to sunlight and is damaged as a result. The skin can then form blisters and become scarred. It is also possible that liver function is impaired. If the condition is very pronounced, you may be seriously ill.
Porphyria is congenital. Other family members may therefore also be affected.
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