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Porphyria is a group of rare genetic disorders that affect the body's ability to make heme, a vital component of hemoglobin. Heme is a molecule that carries oxygen in the blood and is also involved in other important bodily functions. When there is a problem in the heme synthesis pathway, specific substances called porphyrins build up in the body. These porphyrins can be toxic, leading to a variety of symptoms.

There are several types of porphyria, each caused by a different enzyme deficiency in the heme synthesis pathway. The symptoms can vary widely depending on the type of porphyria and the individual. Some people may experience neurological symptoms, such as severe abdominal pain, confusion, seizures, and paralysis. Others may have skin manifestations, like increased sensitivity to sunlight, blistering, and scarring. Acute porphyrias are characterized by sudden, severe attacks of neurological symptoms, while chronic porphyrias may involve ongoing skin problems and organ damage.

Diagnosis typically involves blood, urine, and stool tests to detect elevated levels of porphyrins and related compounds. Genetic testing can also confirm the specific type of porphyria and identify carriers within families. Treatment strategies depend on the type of porphyria and the severity of symptoms. This can include avoiding triggers like certain medications, foods, and alcohol, as well as medications to manage pain, control seizures, and reduce porphyrin production. In some cases, heme therapy or gene therapy may be considered. Management often involves a multidisciplinary team of healthcare professionals.