Diagnosis and therapy of acute intermittent porphyria.

Abstract excerpt

The porphyrias are a group of disorders caused by deficiencies in the activities of the enzymes of the heme biosynthetic pathway. As a result, abnormally elevated levels of porphyrins and/or their precursors, e.g. delta-aminolevulinic acid and porphobilinogen are produced in excess, accumulate in tissues, and are excreted in urine and stool. Two cardinal symptoms of the porphyrias are cutaneous photosensitivity...

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