Acute intermittent porphyria : prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France

Nordmann Y, Puy H, Da Silva V, Simonin S, Robreau AM, Bonaiti C, Phung LN, Deybach JC (Centre Francais des Porphyries, Hopital Louis Mourier, Colombes Cedex, France, and the Institut Gustave Roussy, Cedex, France). Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France. J Intern Med 1997; 242: 213–217. Objectives 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. Design 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. Subjects Four subjects with PBG deaminase deficiency were identified. Two had mutations in the PBG deaminase gene which are known to cause AIP. Conclusion 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.