Porphyria, acute intermittent

Porphyria, acute intermittent - a genetic metabolic disorder inherited in an autosomal dominant pattern. It is caused by a deficiency of the enzyme porphobilinogen deaminase, which is involved in heme biosynthesis. Signs and symptoms include nausea, vomiting, severe abdominal pain and distension, urinary retention, port wine urine discoloration, hypertension, tachycardia, muscle weakness, loss of sensation, anxiety, depression, and arm, leg and back pain.

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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Porphyria, acute intermittent for any updates.

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