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dc.contributor.author
Laróvere, Laura Elena
dc.contributor.author
Fairbanks, Lynette D.
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Jinnah, H. A.
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Guelbert, Norberto Bernardo
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Escuredo, Emilia
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Becerra, Adriana Berónica
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Dodelson de Kremer, Raquel
dc.date.available
2022-01-26T19:27:11Z
dc.date.issued
2021-03
dc.identifier.citation
Laróvere, Laura Elena; Fairbanks, Lynette D.; Jinnah, H. A.; Guelbert, Norberto Bernardo; Escuredo, Emilia; et al.; Lesch-Nyhan disease and its variants: Phenotypic and mutation spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase deficiency in Argentine patients; Scielo; Journal of Inborn Errors of Metabolism and Screening; 3-2021
dc.identifier.uri
http://hdl.handle.net/11336/150718
dc.description.abstract
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) and HPRT-related hyperuricemia (HRH). The objective of this study was to characterize a cohort of Argentine patients with HPRT deficiency diagnosed in a single center. Results: Twenty nine patients were studied, including 12 LND, 15 HND and 2 HRH. The average onset age was 0.64 years for LND with motor delay as the main manifestation, 8.84 years for HND and 2.5 years for HRH; nephrological manifestations predominated as presenting features in these variants. The average diagnosis age was 3.58 years for LND, 17.21 years for HND and 2.5 years for HRH. Clinical heterogeneity was more evident in HND, even in members of the same family. All patients presented hyperuricemia and no detectable HPRT activity in erythrocyte lysate. The molecular study allowed to identify 9 different mutations in HPRT1 gene from 24 patients (11 independent pedigrees) and to establish genotype-phenotype correlation. In conclusion, this study describes the genotypic/phenotypic spectrum of HPRT deficiency in Argentine patients and highlights the need to increase awareness about the suspicion of these diseases, especially the LND variants with high clinical heterogeneity.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Scielo
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Hypoxanthine-guanine phosphoribosyltransferase deficiency
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Hyperuricemia
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Lesch-Nyhan disease
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Lesch-Nyhan variant
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Otras Ciencias de la Salud
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Ciencias de la Salud
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Lesch-Nyhan disease and its variants: Phenotypic and mutation spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase deficiency in 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
2022-01-25T14:41:14Z
dc.identifier.eissn
2326-4594
dc.journal.pais
Brasil
dc.description.fil
Fil: Laróvere, Laura Elena. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
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Fil: Fairbanks, Lynette D.. Purine Research Laboratory, St. Thomass Hosp; Reino Unido
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Fil: Jinnah, H. A.. University of Emory; Estados Unidos
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Fil: Guelbert, Norberto Bernardo. Hospital de Niños de la Santísima Trinidad, Córdoba; Argentina
dc.description.fil
Fil: Escuredo, Emilia. Purine Research Laboratory, St. Thomass Hosp; Reino Unido
dc.description.fil
Fil: Becerra, Adriana Berónica. Hospital de Niños de la Santísima Trinidad, Córdoba; Argentina
dc.description.fil
Fil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina
dc.journal.title
Journal of Inborn Errors of Metabolism and Screening
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1590/2326-4594-jiems-2020-0027
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.scielo.br/j/jiems/a/bJKcpfbPCzLKSNMCqcHBGqD/?lang=en
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