Resumo

AUDICIO, Paola; MENDEZ, María Soledad; QUEIJO, Cecilia  e  LEMES, Aída. Caracterización bioquímica y genética de pacientes con defectos congénitos de la glicosilación: experiencia en Uruguay. Acta bioquím. clín. latinoam. [online]. 2021, vol.55, n.3, pp.283-288. ISSN 0325-2957.

Congenital disorders of glycosylation are a group of genetic, autosomal and recessive diseases, first reported by Jaeken in 1980. These include defects in N- and O-glycosilation of proteins and lipids. Most N-glycosylation defects are multi-organ diseases with neurological involvement. Therefore, the implementation of a screening methodology is necessary to contribute in the diagnosis. Newborn Screening Laboratory included the transferrin isoelectrofocusing as a screening method and, subsequently, PMM2 gene sequencing as a confirmatory method for samples with altered screening. The present study shows the experience and results obtained between November 2017 and December 2018, which made it possible to establish an algorithm that positively impacted in the diagnosis of these patients.

Palavras-chave : Congenital disorders; Glycosilation; Isoelectrofocusing; Phosphomannomutase 2.

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