title: Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France.
abstract: OBJECTIVE
  Acute intermittent porphyria (AIP) is an autosomal dominant disorder resulting from a 50% deficiency in porphobilinogen deaminase (PBG deaminase). The true prevalence in the general population of mutations in the PBG deaminase gene capable of causing AIP is unknown. However, it is important to identify asymptomatic carriers of AIP mutations because all are at risk to have an acute attack.
  
  
  METHODS
  We measured erythrocyte PBG deaminase from 3350 healthy blood donors. When a clear cut deficiency (< mean minus 2.5 SD) was found, the PBG deaminase gene was analysed by molecular biology technics.
  
  
  METHODS
  Four subjects with PBG deaminase deficiency were identified. Two had mutations in the PBG deaminase gene which are known to cause AIP.
  
  
  CONCLUSIONS
  We conclude that, in France, the mutations of the PBG deaminase gene show a high prevalence in the healthy population. If only these two confirmed latent cases are used for the calculation, in France the minimal prevalence of the AIP gene is 1:1675.
authors.affiliation: Centre Français des Porphyries, Hopital Louis Mourier, Colombes, France.
authors.forename: Y
authors.initials: Y
authors.lastname: Nordmann
authors.forename: H
authors.initials: H
authors.lastname: Puy
authors.forename: V
authors.initials: V
authors.lastname: Da Silva
authors.forename: S
authors.initials: S
authors.lastname: Simonin
authors.forename: A M
authors.initials: AM
authors.lastname: Robreau
authors.forename: C
authors.initials: C
authors.lastname: Bonaiti
authors.forename: L N
authors.initials: LN
authors.lastname: Phung
authors.forename: J C
authors.initials: JC
authors.lastname: Deybach
mesh_terms: D001782:Blood Donors; D004587:Electrophoresis, Agar Gel; D004912:Erythrocytes / Q000201:enzymology; D005602:France; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood / Q000235:genetics*; D009154:Mutation; D017118:Porphyria, Acute Intermittent / Q000235:genetics*; D015995:Prevalence
chemical_list: D011163:Hydroxymethylbilane Synthase