Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future

Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals. Methods needed to be developed and validated for the use of dried blood spots. Following its inst...

Descripción completa

Detalles Bibliográficos
Autores principales: Moser, Ann B., Seeger, Elisa, Raymond, Gerald V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Commentary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8884000/
https://www.ncbi.nlm.nih.gov/pubmed/35225938
http://dx.doi.org/10.3390/ijns8010016
Descripción
Sumario:Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals. Methods needed to be developed and validated for the use of dried blood spots. Following its institution in New York, its acceptance as a disorder on the Recommended Uniform Screening occurred. With it has come published recommendations on the surveillance and care of boys detected by newborn screening. There still remain challenges, but it is hoped that with periodic review, they may be overcome.

Ejemplares similares