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Pathway Description
Acute Intermittent Porphyria
Homo sapiens
Disease Pathway
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
[Uniprot: P08397](http://www.uniprot.org/uniprot/P08397)
[OMIM: Entry 176000](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176000)
GOLDBERG A: Acute intermittent porphyria: a study of 50 cases. Q J Med. 1959 Apr;28(110):183-209.
Pubmed: 13658350
Astrin KH, Desnick RJ: Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene. Hum Mutat. 1994;4(4):243-52. doi: 10.1002/humu.1380040403.
Pubmed: 7866402
Becker DM, Kramer S: The neurological manifestations of porphyria: a review. Medicine (Baltimore). 1977 Sep;56(5):411-23.
Pubmed: 329053
Beukeveld GJ, Wolthers BG, Nordmann Y, Deybach JC, Grandchamp B, Wadman SK: A retrospective study of a patient with homozygous form of acute intermittent porphyria. J Inherit Metab Dis. 1990;13(5):673-83.
Pubmed: 2246851
Floderus Y, Shoolingin-Jordan PM, Harper P: Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene. Clin Genet. 2002 Oct;62(4):288-97.
Pubmed: 12372055
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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