Acute Intermittent Porphyria


Acute intermittent porphyria (AIP), the second most common form of porphyria, is caused by a defect in the HMBS gene which codes for porphobilinogen deaminase. A defect in this enzyme results in accumulation of 5-aminolevulinic acid or porphobilinogen in both urine and serum. Most Patients are completely free of symptoms between attacks. Symtpoms include abdominal pain, constipation, vomitting, hypertension, muscle weakness, seizures, delirium, coma, and depression. A high-carbohydrate diet is typically recommended; in severe attacks, a glucose 10% infusion is recommended, which may aid in recovery.

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References

  1. Uniprot: P08397
  2. OMIM: Entry 176000
  3. GOLDBERG A: Acute intermittent porphyria: a study of 50 cases. Q J Med. 1959 Apr;28(110):183-209. Pubmed
  4. 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. Pubmed
  5. Becker DM, Kramer S: The neurological manifestations of porphyria: a review. Medicine (Baltimore). 1977 Sep;56(5):411-23. Pubmed
  6. 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
  7. 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