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Genetics

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Acute intermittent porphyria is an autosomal dominant deficiency in porphobilinogen deaminase. This results in an excessive production of the haem precursors aminolevulinic acid (ALA) and porphobilinogen (PBG).

Most individuals remain clinically latent until a precipitating factor triggers an acute attack.


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