Sign up for email alert when new content gets added: Sign up
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.