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Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France. 1997

Y Nordmann, and H Puy, and V Da Silva, and S Simonin, and A M Robreau, and C Bonaiti, and L N Phung, and J C Deybach
Centre Français des Porphyries, Hopital Louis Mourier, Colombes, France.

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.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D011163 Hydroxymethylbilane Synthase An enzyme that catalyzes the tetrapolymerization of the monopyrrole PORPHOBILINOGEN into the hydroxymethylbilane preuroporphyrinogen (UROPORPHYRINOGENS) in several discrete steps. It is the third enzyme in the 8-enzyme biosynthetic pathway of HEME. In humans, deficiency in this enzyme encoded by HMBS (or PBGD) gene results in a form of neurological porphyria (PORPHYRIA, ACUTE INTERMITTENT). This enzyme was formerly listed as EC 4.3.1.8 Porphobilinogen Ammonia-Lyase,Porphobilinogen Deaminase,Uroporphyrinogen I Synthase,Hydroxymethylbilane Synthetase,Pre-uroporphyrinogen Synthetase,Preuroporphyrinogen Synthetase,Ammonia-Lyase, Porphobilinogen,Deaminase, Porphobilinogen,Porphobilinogen Ammonia Lyase,Pre uroporphyrinogen Synthetase,Synthase, Hydroxymethylbilane,Synthase, Uroporphyrinogen I,Synthetase, Hydroxymethylbilane,Synthetase, Pre-uroporphyrinogen,Synthetase, Preuroporphyrinogen
D001782 Blood Donors Individuals supplying blood or blood components for transfer to histocompatible recipients. Blood Donor,Donor, Blood,Donors, Blood
D004587 Electrophoresis, Agar Gel Electrophoresis in which agar or agarose gel is used as the diffusion medium. Electrophoresis, Agarose Gel,Agar Gel Electrophoresis,Agarose Gel Electrophoresis,Gel Electrophoresis, Agar,Gel Electrophoresis, Agarose
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D005602 France A country in western Europe bordered by the Atlantic Ocean, the English Channel, the Mediterranean Sea, and the countries of Belgium, Germany, Italy, Spain, Switzerland, the principalities of Andorra and Monaco, and by the duchy of Luxembourg. Its capital is Paris. Corsica,Saint Pierre and Miquelon,Miquelon and Saint Pierre,Miquelon and St. Pierre,St. Pierre and Miquelon
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015995 Prevalence The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time. Period Prevalence,Point Prevalence,Period Prevalences,Point Prevalences,Prevalence, Period,Prevalence, Point,Prevalences
D017118 Porphyria, Acute Intermittent An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine. Hydroxymethylbilane Synthase Deficiency,Uroporphyrinogen Synthase Deficiency,Acute Porphyria,PBGD Deficiency,Porphobilinogen Deaminase Deficiency,Porphyria, Swedish Type,UPS Deficiency,Acute Intermittent Porphyria,Acute Intermittent Porphyrias,Acute Porphyrias,Deaminase Deficiencies, Porphobilinogen,Deaminase Deficiency, Porphobilinogen,Deficiencies, Hydroxymethylbilane Synthase,Deficiencies, PBGD,Deficiencies, Porphobilinogen Deaminase,Deficiencies, UPS,Deficiencies, Uroporphyrinogen Synthase,Deficiency, Hydroxymethylbilane Synthase,Deficiency, PBGD,Deficiency, Porphobilinogen Deaminase,Deficiency, UPS,Deficiency, Uroporphyrinogen Synthase,Hydroxymethylbilane Synthase Deficiencies,Intermittent Porphyria, Acute,Intermittent Porphyrias, Acute,PBGD Deficiencies,Porphobilinogen Deaminase Deficiencies,Porphyria, Acute,Porphyrias, Acute,Porphyrias, Acute Intermittent,Porphyrias, Swedish Type,Swedish Type Porphyria,Swedish Type Porphyrias,Synthase Deficiencies, Hydroxymethylbilane,Synthase Deficiencies, Uroporphyrinogen,Synthase Deficiency, Hydroxymethylbilane,Synthase Deficiency, Uroporphyrinogen,Type Porphyria, Swedish,Type Porphyrias, Swedish,UPS Deficiencies,Uroporphyrinogen Synthase Deficiencies

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