Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria

• Main Authors: Yibao Fu (Author), Jinmeng Jia (Author), Lishu Yue (Author), Ruiying Yang (Author), Yongli Guo (Author), Xin Ni (Author), Tieliu Shi (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

The rare autosomal dominant disorder acute intermittent porphyria (AIP) is caused by the deficient activity of hydroxymethylbilane synthase (HMBS). The symptoms of AIP are acute neurovisceral attacks which are induced by the dysfunction of heme biosynthesis. To better interpret the underlying mechan...