Porphyria, acute intermittent, nonerythroid variant

MedGen UID:: 357392
•Concept ID:: C1867969
•: Disease or Syndrome

Synonym:	Porphyria, Acute Intermittent, Nonerythroid Variant

OMIM®:	176000; 609806

Recent clinical studies

Etiology

Heme biosynthesis and the porphyrias.

Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287 Free PMC Article

See all (1)

Diagnosis

Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP).

Granata F, Mendez M, Brancaleoni V, Castelbon FJ, Graziadei G, Ventura P, Di Pierro E
Mol Genet Metab 2018 Nov;125(3):295-301. Epub 2018 Sep 5 doi: 10.1016/j.ymgme.2018.09.002. PMID: 30201327

Seven novel genetic mutations within the 5'UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria.

Brancaleoni V, Granata F, Colancecco A, Tavazzi D, Cappellini MD, Di Pierro E
Blood Cells Mol Dis 2012 Oct 15-Dec 15;49(3-4):147-51. Epub 2012 Jun 29 doi: 10.1016/j.bcmd.2012.06.002. PMID: 22748422

A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria.

Yu S, Poulos V, Stewart P
J Hum Genet 2000;45(6):367-9. doi: 10.1007/s100380070010. PMID: 11185747

Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene.

Whatley SD, Roberts AG, Llewellyn DH, Bennett CP, Garrett C, Elder GH
Hum Genet 2000 Sep;107(3):243-8. doi: 10.1007/s004390000356. PMID: 11071386

See all (4)