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Acute intermittent porphyria

Andriya Collins

A rare autosomal dominant condition known as acute intermittent porphyria is marked by a lack of Hydroxymethylbilane Synthase (HMBS). It manifests as sickness, vomiting, seizures, peripheral neuropathy, and abdominal discomfort. Intravenous heme is used as a treatment for acute episodes. An ortho topic liver transplant is the only effective therapy.


 
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