Acute intermittent porphyria: laboratory diagnosis by molecular methods.

Abstract excerpt

Acute intermittent porphyria is a neurologic disorder caused by a partial deficiency of porphobilinogen (PBG) deaminase, the third enzyme in the synthetic pathway for heme. The isolation and characterization of the gene for PBG deaminase has brought molecular techniques for diagnosing the disease within reach. Over 60 mutations causing acute intermittent porphyria have been found, most of which are confined to...

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