Sezgin, Gulbuz2024-07-122024-07-1220161305-2381https://hdl.handle.net/20.500.12415/8385Porphyrias are among rare group of inherited diseases emerging due to decreased enzymes which have the role of the biosynthesis of the hem. The most common and the most serious form is acute intermittent porphyria (AIP) which is an autosomal dominant disease. Gastrointestinal and neuropsychiatric symptoms can be seen at the patients. Five cases who had been followed 2-23 years after the diagnosis, were presented in this paper. Three cases were brothers, one case was father and daughter, and the other case was a male from different family. Symptoms were first seen between ages 15-39. Two cases showed long and severe attacks which were characterized by symptoms of the autonomic and peripheral nervous system. Abdominal pain for other three cases and neurologic signs for the fifth case were distinctive. Porphobilinogen, protoporphyrin and aminolevulinic acide were high in the urine of every patient. All patients were provided benefits from intravenous hem treatment. Second case was deceased on 19th year of the follow-up, due to multi organ failure after myocardial infarction. As a conclusion; even though porphyria is an easily diagnosable disease, main problem is that there is little knowable and little awareness of the disease. Patients can apply with different clinical appearance and it is interesting that the disease is highly sensitive to the environmental factors and comorbidities.eninfo:eu-repo/semantics/closedAccessAcute intermittent porphyriaabdominal painneuropathyporphobilinogen deaminasehemeArticle742Q46912WOS:000384737100011N/A