Importancia del diagnóstico precoz y el tratamiento temprano en el pronóstico de la aciduria glutárica tipo I

Couce, María L.; Ramos, Diana Esteba; Sousa, M. López; Seara, María José Fernández; Eirís-Puñal, Jesús; Juan, José Ángel Cocho de

doi:10.1157/13125818

Cited by 6 publications

(2 citation statements)

References 16 publications

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“…A systematic literature search was performed by the authors and conducted in PubMed for publications between January 2000 up to May 2022, that report GCDH variants in GA1 patients. For this search the following MeSH terms were used: “glutaric aciduria type 1,” “glutaric acidemia type 1,” “glutaric aciduria type I,” “glutaric acidemia type I,” “glutaryl‐CoA dehydrogenase deficiency,” and “GCDH” 30–107 . References from selected articles from before the year 2000 with complete description of GA1 patients were also included.…”

Section: Methodsmentioning

confidence: 99%

Exploring genotype–phenotype correlations in glutaric aciduria type 1

Schuurmans

Dimitrov

Schröter

et al. 2023

J of Inher Metab Disea

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Glutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by pathogenic variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). We performed an extensive literature search to collect data on GA1 patients, together with unpublished cases, to provide an up-to-date genetic landscape of GCDH pathogenic variants and to investigate potential genotypephenotype correlation, as this is still poorly understood. From this search, 421 different GCDH pathogenic variants have been identified, including four novel variants; c.179T>C (p.Leu60Pro), c.214C>T (p.Arg72Cys), c.309G>C (p.Leu103Phe), and c.665T>C (p.Phe222Ser).The variants are mostly distributed across the entire gene; although variant frequency in GA1 patients is relatively high in the regions encoding for active domains of GCDH. To investigate potential genotype-phenotype correlations, phenotypic descriptions of 532 patients

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Section: Methodsmentioning

confidence: 99%

Exploring genotype–phenotype correlations in glutaric aciduria type 1

Schuurmans

Dimitrov

Schröter

et al. 2023

J of Inher Metab Disea

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“…Estas secuelas son prevenibles con el diagnóstico temprano y tratamiento adecuado con biotina. La incidencia en Argentina es de 1 en 120.000 18,24,25 .…”

Section: La Pesquisa Neonatal Hoyunclassified

Pesquisa neonatal: invalorable ejemplo de prevención en salud pública

Young¹

2020

RFEM

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1960. Robert Guthrie fue el creador de un test para el diagnóstico neonatal de fenilcetonuria y desarrolló un novedoso y e caz sistema de toma, almacenamiento y transporte de muestras de sangre consistente en la recolección de una gota de sangre de talón del neonato sobre papel de ltro. Este gran invento comenzó a recorrer el mundo, hasta llegar a instalarse en Argentina en 1979, gracias a la Fundación de Endocrinología Infantil (FEI).

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