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Acute Intermittent Porphyria in Argentina: An Update
Joint Authors
Batlle, Alcira
Cerbino, Gabriela Nora
Gerez, Esther Noemí
Varela, Laura Sabina
Melito, Viviana Alicia
Parera, Victoria Estela
Rossetti, María Victoria
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-05-17
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Cerbino, Gabriela Nora& Gerez, Esther Noemí& Varela, Laura Sabina& Melito, Viviana Alicia& Parera, Victoria Estela& Batlle, Alcira…[et al.]. 2015. Acute Intermittent Porphyria in Argentina: An Update. BioMed Research International،Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1057340
Modern Language Association (MLA)
Cerbino, Gabriela Nora…[et al.]. Acute Intermittent Porphyria in Argentina: An Update. BioMed Research International No. 2015 (2015), pp.1-8.
https://search.emarefa.net/detail/BIM-1057340
American Medical Association (AMA)
Cerbino, Gabriela Nora& Gerez, Esther Noemí& Varela, Laura Sabina& Melito, Viviana Alicia& Parera, Victoria Estela& Batlle, Alcira…[et al.]. Acute Intermittent Porphyria in Argentina: An Update. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1057340
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1057340