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dc.contributor.author
Enacán, Rosa E.
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Miñana, Mariana Nuñez
dc.contributor.author
Fernandez, Luis
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Valle, María Gabriela
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Salerno, Mercedes
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Fraga, Claudia I.
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Santos Simarro, Fernando
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Prieto, Laura
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Lapunzina, Pablo
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Specola, Norma
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Chiesa, Ana Elena
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dc.date.available
2022-03-04T18:29:54Z
dc.date.issued
2019-12
dc.identifier.citation
Enacán, Rosa E.; Miñana, Mariana Nuñez; Fernandez, Luis; Valle, María Gabriela; Salerno, Mercedes; et al.; Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients; Sage Publications Ltd; Journal of Inborn Errors of Metabolism and Screening; 7; e20190012; 12-2019; 1-8
dc.identifier.uri
http://hdl.handle.net/11336/152928
dc.description.abstract
Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes). Fifty-four different pathogenic variants were identified. Mutations were distributed all along the PAH gene but concentrated in exon 7 (26%), 12 (12%), 11 (10%), and 6 (10%). 77% were missense, and 77% affected the enzyme catalytic domain, nine mutations accounted for 57% of 179 studied alleles: p.Arg261Gln (Allele frequency(AF):10.6%), c.1066-11G>A (AF:9,5%), p.Arg408Trp (AF:8,3%), p.Tyr414Cys (AF:5,5%), p.Ala403Val, p.Val388Met, and p.Arg158Gln (AF: 5% each), p.Leu48Ser, and p.Ile65Thr (AF:4% each). The predicted phenotype was assigned by Guldberg´s arbitrary value (AV) and compared with the clinical phenotype based in tolerance to Phe intake. 29.1% (n:30) were hyperphenylalaninemias, 18.5% (n:19) mild-PKU, 27.2% (n:28) moderate-PKU and 25.2 % (n:26) classical-PKU. Genotype/phenotype correlation was statistically significant (p<0.001) Overall concordance was 62,5%: 93.3% in hyperphenylalaninemia, 64.7% in mild-PKU and 65.4% in classical patients. The moderate-PKU showed a weak concordance (17%) with milder AV prediction than clinical assessment. 74% of discordant moderate patients harbored p.Arg261Gln, and p.Val388Met. Our cohort is highly heterogeneous, with predominant Mediterranean influence (mainly Spanish), but with differences with other Latin-American countries.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Sage Publications Ltd
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by/2.5/ar/
dc.subject
PKU
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GENOTYPING
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PHENYLALAINE HIDROXILASE
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Endocrinología y Metabolismo
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Medicina Clínica
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2020-11-06T20:26:13Z
dc.identifier.eissn
2326-4594
dc.journal.volume
7
dc.journal.number
e20190012
dc.journal.pagination
1-8
dc.journal.pais
Brasil
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dc.journal.ciudad
Porto Alegre
dc.description.fil
Fil: Enacán, Rosa E.. Fundacion de Endocrinologia Infantil.; Argentina
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Fil: Miñana, Mariana Nuñez. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; Argentina
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Fil: Fernandez, Luis. Universidad Autónoma de Madrid; España
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Fil: Valle, María Gabriela. Fundacion de Endocrinologia Infantil.; Argentina
dc.description.fil
Fil: Salerno, Mercedes. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; Argentina
dc.description.fil
Fil: Fraga, Claudia I.. Fundacion de Endocrinologia Infantil.; Argentina
dc.description.fil
Fil: Santos Simarro, Fernando. Universidad Autónoma de Madrid; España
dc.description.fil
Fil: Prieto, Laura. Fundacion de Endocrinologia Infantil.; Argentina
dc.description.fil
Fil: Lapunzina, Pablo. Universidad Autónoma de Madrid; España
dc.description.fil
Fil: Specola, Norma. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; Argentina
dc.description.fil
Fil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina. Fundacion de Endocrinologia Infantil.; Argentina
dc.journal.title
Journal of Inborn Errors of Metabolism and Screening
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100309&tlng=en
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1590/2326-4594-jiems-2019-0012
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