What are treatments for Acute Intermittent Porphyria?
What is Acute Intermittent Porphyria? AIP is a deficiency of the enzyme hydroxymethylbilane synthase (also known as porphobilinogen deaminase). The enzyme deficiency alone is not sufficient to produce the symptoms of AIP, and other activating factors, such as drugs, hormones, and dietary changes, must be present. Sometimes activating factors cannot be identified. Most people who have a mutation in the gene for AIP never develop symptoms; this is referred to as “latent” AIP. Symptoms may develop after puberty, especially in women. Acute attacks almost always start with severe pain in the abdomen but sometimes in the chest, back, or thighs, and are often accompanied by nausea, vomiting, and constipation. Heart rate and blood pressure are commonly increased. These symptoms and signs are all due to the effects of the disease on the nervous system. Confusion, convulsions, and muscular weakness, due to impairment of the nerves controlling the muscles, may lead to paralysis. An acute attack u
