Acute intermittent porphyria research

Acute intermittent porphyria is a rare genetic disease of hepatic origin that affects about 5 out of every 100,000 inhabitants. It manifests as acute crises, with abdominal pain, nausea, vomiting, constipation, tachycardia and hypertension, insomnia, anxiety, depression, motor coordination problems and even hallucinations. 

Porphyrias are diseases that affect the production of heme, a molecule with multiple and varied functions in cells, such as energy production. In the liver, heme is an essential element that manages and eliminates toxic waste generated by the body or received from the outside.

The disease arises from a mutation in a gene responsible for regulating the production of heme, which can cause metabolic blockages in the liver that accumulate toxic substances that travel through the blood to the nervous system. This can be produced by some medications, strict diets, viral infections or prolonged stress. However, the main factor is the female hormones associated with the menstrual cycle, making young women the most vulnerable group.

There is currently no specific treatment for this disease, which can sometimes cause significant neurological damage and even require liver and/or kidney transplants.

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We dream of curing acute intermittent porphyria

Recent advances in research are providing encouraging results, but much remains to be discovered.

We deepen our knowledge of the disease and characterize new markers for its early detection and evolution.

We seek to develop therapeutic strategies based on gene therapy and innovative biotechnological products.

We work closely with researchers and clinicians to rapidly translate findings from the laboratory to the patient.

REFERENCES IN PORPHYRIA RESEARCH

Acute Porphyrias Research Group

Research team with more than 30 years of experience, internationally accredited in the diagnosis and treatment of porphyrias. Its objective is to find biomarkers for early detection of acute intermittent porphyria, as well as to develop new therapeutic alternatives and innovative strategies for its treatment.

It is part of the Hepatology Program.