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dc.contributor.author
Silvera Ruiz, Silene Maite
dc.contributor.author
Arranz, José A.
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Häberle, Johannes
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Angaroni, Celia Juana
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Bezard, Miriam
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Guelbert, Norberto Bernardo
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Becerra, Adriana Berónica
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Peralta, Maria Fernanda
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Dodelson de Kremer, Raquel
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Laróvere, Laura Elena
dc.date.available
2020-06-02T19:41:41Z
dc.date.issued
2019-08
dc.identifier.citation
Silvera Ruiz, Silene Maite; Arranz, José A.; Häberle, Johannes; Angaroni, Celia Juana; Bezard, Miriam; et al.; Urea cycle disorders in Argentine patients: Clinical presentation, biochemical and genetic findings; BioMed Central; Orphanet Journal Of Rare Diseases; 14; 1; 8-2019
dc.identifier.uri
http://hdl.handle.net/11336/106543
dc.description.abstract
The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients examined at a single reference center in Argentina. Forty-nine UCD cases were collected. About half (26/49, 53%) manifested neonatally with classical presentation and had a high mortality (25/26, 96%). Ornithine transcarbamylase deficiency (OTCD) was the most common UCD (26 patients). Argininosuccinate synthetase deficiency (ASSD) was detected in 19 cases, while argininosuccinate lyase deficiency (ASLD) was diagnosed in 4 cases. Molecular genetic analysis revealed 8 private OTC mutations and two large deletion/duplication events in the OTC gene. Most mutations in the ASS1 and ASL genes were recurrent missense changes, and four alterations were novel. The clinical outcome of our UCD cohort was poor, with an overall mortality of 57% (28/49 cases), and a 28% (6/21) disability rate among the survivors. Most patients in our case series showed severe neonatal onset, with high morbidity/ mortality. We detected in total 19 mutations, most of them recurrent and of high frequency worldwide. Noteworthy, we highlight the presence of a geographic cluster with high prevalence of a point mutation in the ASS1 gene. This study suggests that these disorders may be more frequent than commonly assumed, and stresses the need for increased awareness amongst health professionals and greater availability of diagnostic tools for accurate identification, earlydiagnosis, and timely treatment.
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application/pdf
dc.language.iso
eng
dc.publisher
BioMed Central
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
UREA CYCLE DEFECTS
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HYPERAMMONEMIA
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ARGENTINE PATIENTS
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INHERITED METABOLIC DISORDERS
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Otras Ciencias Médicas
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Otras Ciencias Médicas
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Urea cycle disorders in Argentine patients: Clinical presentation, biochemical and genetic findings
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2020-06-02T13:42:43Z
dc.identifier.eissn
1750-1172
dc.journal.volume
14
dc.journal.number
1
dc.journal.pais
Reino Unido
dc.journal.ciudad
Londres
dc.description.fil
Fil: Silvera Ruiz, Silene Maite. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina
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Fil: Arranz, José A.. Laboratori de Metabolopaties, Hospital Vall Dhebron; España
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Fil: Häberle, Johannes. University Children's Hospital And Children´s Research; Suiza
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Fil: Angaroni, Celia Juana. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina
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Fil: Bezard, Miriam. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina
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Fil: Guelbert, Norberto Bernardo. Hospital de Niños de la Santísima Trinidad, Córdoba; Argentina
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Fil: Becerra, Adriana Berónica. Hospital de Niños de la Santísima Trinidad, Córdoba; Argentina
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Fil: Peralta, Maria Fernanda. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina
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Fil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina
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Fil: Laróvere, Laura Elena. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina
dc.journal.title
Orphanet Journal Of Rare Diseases
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1177-3
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1186/s13023-019-1177-3
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