A Chronic Precipitant for Acute Intermittent Porphyria

Name: Work Video:
Duration: 3 min 30 s
Description: Acute intermittent porphyria (AIP) is a rare inherited disorder of heme metabolism caused by a heterozygous, loss-of-function mutation affecting the enzyme porphobilinogen deaminase (PBGD). The remaining enzymatic activity is sufficient to avoid accumulation of intermediate metabolites until hepatic heme production is further activated, i.e. by a precipitant.
Nick Li
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