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Diseases List


Acute Intermittent Porphyria

Acute Intermittent Porphyria is a deficiency in porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMB synthase). A deficiency of PBGD is not sufficient by itself to produce AIP, and other activating factors must also be present. These include hormones, drugs and dietary changes. Sometimes, activating factors cannot be identified.

Associated Genes

Gene Name Chromosome number
UROS 10
HMBS 11