Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2020 Nov;9(4):187-195.
doi: 10.5582/irdr.2020.03054.

Acute intermittent porphyria: focus on possible mechanisms of acute and chronic manifestations

Yuelin Ma  1 , Qing Teng  1 , Yiran Zhang  2 , Songyun Zhang  1
Affiliations
Review

Acute intermittent porphyria: focus on possible mechanisms of acute and chronic manifestations

Yuelin Ma et al. Intractable Rare Dis Res. 2020 Nov.

Abstract

Porphyrias are a group of inherited metabolic diseases that include eight types, each of which is caused by a mutation that affects an enzyme of the heme biosynthetic pathway. When an enzyme defect has physiological significance, it leads to overproduction of pathway precursors prior to the defective step. The partial absence of the third enzyme in the heme biosynthetic pathway, porphobilinogen deaminase (PBGD) also known as hydroxymethylbilane synthase (HMBS), results in acute intermittent porphyria (AIP), which affects mainly women. Subjects who had AIP symptoms were deemed to have manifest AIP (MAIP). Clinical manifestations are usually diverse and non-specific. Acute AIP episodes may present with abdominal pain, nausea, and vomiting, and repeated episodes may result in a series of chronic injuries. Therefore, studying the mechanisms of acute and chronic manifestations of AIP is of great significance. This review aims to summarize the possible mechanisms of acute and chronic manifestations in patients with AIP.

Keywords: acute intermittent porphyria; aminolevulinic acid (ALA); attack; mechanisms.

PubMed Disclaimer

References

    1. Bronisch O, Stauch T, Haverkamp T, Beykirch MK, Petrides PE. Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families. Ann Hematol. 2019; 98:2683-2691. - PubMed
    1. Duque-Serrano L, Patarroyo-Rodriguez L, Gotlib D, Molano-Eslava JC. Psychiatric aspects of acute porphyria: a comprehensive review. Curr Psychiatry Rep. 2018; 20:5. - PubMed
    1. Yasuda M, Gan L, Chen B, Yu C, Zhang J, Gama-Sosa MA, Pollak DD, Berger S, Phillips JD, Edelmann W, Desnick RJ. Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. Hum Mol Genet. 2019; 28:1755-1767. - PMC - PubMed
    1. Neeleman RA, Wagenmakers MAEM, Koole-Lesuis RH, Mijnhout GS, Wilson JHP, Friesema ECH, Langendonk JG. Medical and financial burden of acute intermittent porphyria. J Inherit Metab Dis. 2018; 41:809-817. - PMC - PubMed
    1. Stein PE, Badminton MN, Rees DC. Update review of the acute porphyrias. Br J Haematol. 2017; 176:527-538. - PubMed