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Pathway Description
Acute Intermittent Porphyria
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
Acute intermittent porphyria (AIP), also called Swedish porphyria, is a rare inborn error of metabolism (IEM) and autosomal dominant disorder of heme biosynthesis caused by a defective HMBS gene. The HMBS gene codes for the protein hydroxymethylbilane synthase (porphobilinogen deaminase) which catalyzes the synthesis of porphobilinogen into hydroxymethylbilane. This disorder is characterized by a large accumulation of 5-aminolevulinic acid or porphobilinogen in both urine and serum. Most patients are asymptomatic between attacks. Symptoms of the disorder include abdominal pain, constipation, vomiting, hypertension, muscle weakness, seizures, delirium, coma, and depression. Treatment involves undertaking a high-carbohydrate diet and, during severe attacks, a glucose 10% infusion. It is estimated that AIP affects 5.9 per 1 000 000 people.
References
Acute Intermittent Porphyria References
Whatley SD, Badminton MN: Acute Intermittent Porphyria
Pubmed: 20301372
http://www.ashg.org/2008meeting/abstracts/fulltext/f22209.htm
Porphyrin Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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Pubmed: 2768242
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Pubmed: 16141072
Huttlin EL, Jedrychowski MP, Elias JE, Goswami T, Rad R, Beausoleil SA, Villen J, Haas W, Sowa ME, Gygi SP: A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89. doi: 10.1016/j.cell.2010.12.001.
Pubmed: 21183079
Xu W, Kozak CA, Desnick RJ: Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7. Genomics. 1995 Apr 10;26(3):556-62.
Pubmed: 7607680
Bensidhoum M, Ged CM, Poirier C, Guenet JL, de Verneuil H: The cDNA sequence of mouse uroporphyrinogen III synthase and assignment to mouse chromosome 7. Mamm Genome. 1994 Nov;5(11):728-30.
Pubmed: 7873885
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Pubmed: 15489334
Boulechfar S, Lamoril J, Montagutelli X, Guenet JL, Deybach JC, Nordmann Y, Dailey H, Grandchamp B, de Verneuil H: Ferrochelatase structural mutant (Fechm1Pas) in the house mouse. Genomics. 1993 Jun;16(3):645-8. doi: 10.1006/geno.1993.1242.
Pubmed: 8325637
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Pubmed: 2246229
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Pubmed: 1704134
Church DM, Goodstadt L, Hillier LW, Zody MC, Goldstein S, She X, Bult CJ, Agarwala R, Cherry JL, DiCuccio M, Hlavina W, Kapustin Y, Meric P, Maglott D, Birtle Z, Marques AC, Graves T, Zhou S, Teague B, Potamousis K, Churas C, Place M, Herschleb J, Runnheim R, Forrest D, Amos-Landgraf J, Schwartz DC, Cheng Z, Lindblad-Toh K, Eichler EE, Ponting CP: Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol. 2009 May 5;7(5):e1000112. doi: 10.1371/journal.pbio.1000112. Epub 2009 May 26.
Pubmed: 19468303
Kimura T, Owens IS: Mouse UDP glucuronosyltransferase. cDNA and complete amino acid sequence and regulation. Eur J Biochem. 1987 Nov 2;168(3):515-21. doi: 10.1111/j.1432-1033.1987.tb13448.x.
Pubmed: 3117546
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000344
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