描述
Acute intermittent porphyria (AIP), the second most common form of porphyria, is caused by a defect in the HMBS gene which codes for porphobilinogen deaminase. A defect in this enzyme results in accumulation of 5-aminolevulinic acid or porphobilinogen in both urine and serum. Most Patients are completely free of symptoms between attacks. Symtpoms include abdominal pain, constipation, vomitting, hypertension, muscle weakness, seizures, delirium, coma, and depression. A high-carbohydrate diet is typically recommended; in severe attacks, a glucose 10% infusion is recommended, which may aid in recovery.