title: Acute intermittent porphyria in Argentina: an update.
abstract: Porphyrias are a group of metabolic diseases that arise from deficiencies in the heme biosynthetic pathway. A partial deficiency in hydroxymethylbilane synthase (HMBS) produces a hepatic disorder named Acute Intermittent Porphyria (AIP); the acute porphyria is more frequent in Argentina. In this paper we review the results obtained for 101 Argentinean AIP families and 6 AIP families from foreign neighbour countries studied at molecular level at Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP). Thirty-five different mutations were found, of which 14 were described for the first time in our population. The most prevalent type of mutations was the missense mutations (43%) followed by splice defects (26%) and small deletions (20%). An odd case of a double heterozygous presentation of AIP in a foreign family from Paraguay is discussed. Moreover, it can be noted that 38 new families were found carrying the most frequent mutation in Argentina (p.G111R), increasing to 55.66% the prevalence of this genetic change in our population and adding further support to our previous hypothesis of a founder effect for this mutation in Argentina. Identification of patients with an overt AIP is important because treatment depends on an accurate diagnosis, but more critical is the identification of asymptomatic relatives to avoid acute attacks which may progress to death.
authors.affiliation: Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), CONICET, Hospital de Clínicas, Universidad de Buenos Aires (UBA), 1120 Buenos Aires, Argentina.
authors.forename: Gabriela Nora
authors.initials: GN
authors.lastname: Cerbino
authors.affiliation: Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), CONICET, Hospital de Clínicas, Universidad de Buenos Aires (UBA), 1120 Buenos Aires, Argentina.
authors.forename: Esther Noemí
authors.initials: EN
authors.lastname: Gerez
authors.affiliation: Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), CONICET, Hospital de Clínicas, Universidad de Buenos Aires (UBA), 1120 Buenos Aires, Argentina.
authors.forename: Laura Sabina
authors.initials: LS
authors.lastname: Varela
authors.affiliation: Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), CONICET, Hospital de Clínicas, Universidad de Buenos Aires (UBA), 1120 Buenos Aires, Argentina ; Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires (UBA), Ciudad Universitaria, Núnez, Universidad de Buenos Aires (UBA), 1120 Buenos Aires, Argentina.
authors.forename: Viviana Alicia
authors.initials: VA
authors.lastname: Melito
authors.affiliation: Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), CONICET, Hospital de Clínicas, Universidad de Buenos Aires (UBA), 1120 Buenos Aires, Argentina.
authors.forename: Victoria Estela
authors.initials: VE
authors.lastname: Parera
authors.affiliation: Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), CONICET, Hospital de Clínicas, Universidad de Buenos Aires (UBA), 1120 Buenos Aires, Argentina.
authors.forename: Alcira
authors.identifier: 0000-0002-4894-8955
authors.initials: A
authors.lastname: Batlle
authors.affiliation: Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), CONICET, Hospital de Clínicas, Universidad de Buenos Aires (UBA), 1120 Buenos Aires, Argentina ; Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires (UBA), Ciudad Universitaria, Núnez, Universidad de Buenos Aires (UBA), 1120 Buenos Aires, Argentina.
authors.forename: María Victoria
authors.initials: MV
authors.lastname: Rossetti
mesh_terms: D000328:Adult; D000368:Aged; D001118:Argentina / Q000453:epidemiology; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017118:Porphyria, Acute Intermittent / Q000453:epidemiology* / Q000235:genetics*; D015995:Prevalence