Abstract
The porphyrias are a group of eight genetic disorders of heme biosynthesis that result from the deficient activity of a certain enzyme in the biosynthesis pathway. These disorders are separated by symptom manifestation and classified as acute porphyrias and cutaneous porphyrias. One of the acute porphyrias, acute intermittent porphyria (AIP), is caused by a prophobilinogen deaminase deficiency and usually presents as abdominal pain, nausea, constipation, and confusion.
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