acute intermittent porphyria

Acute intermittent porphyria (AIP) is a metabolic disease characterized by the overproduction and excretion of porphyrins, which are intermediate molecules in the synthesis of heme. Heme is crucial for oxygen transport in red blood cells and liver detoxification processes.12

AIP is an autosomal dominant condition, meaning it can be inherited. It is caused by a deficiency in the enzyme porphobilinogen deaminase. Symptoms, which typically emerge during adolescence, can be triggered by hormonal changes, alcohol, certain foods, and drugs. These symptoms often include neurological issues, intermittent abdominal pain, nausea, and vomiting. The urine may appear dark or red. Diagnosis involves detecting porphyrins in the urine, and treatment for acute attacks includes heme administration and a high-carbohydrate diet.12