Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases

The determination of acylcarnitines (AC) in dried blood spots (DBS) by tandem mass spectrometry in newborn screening (NBS) programs has enabled medium-chain acyl-coA dehydrogenase deficiency (MCADD) to be identified in presymptomatic newborns. Nevertheless, different confirmatory tests must be perfo...

Full description

Bibliographic Details
Main Authors: Patricia Alcaide, Isaac Ferrer-López, Leticia Gutierrez, Fatima Leal, Elena Martín-Hernández, Pilar Quijada-Fraile, Marcello Bellusci, Ana Moráis, Consuelo Pedrón-Giner, Dolores Rausell, Patricia Correcher, María Unceta, Sinziana Stanescu, Magdalena Ugarte, Pedro Ruiz-Sala, Belén Pérez
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:Journal of Clinical Medicine
Subjects:
acylcarnitines
lymphocyte enzyme activity
medium-chain acyl-CoA dehydrogenase
newborn screening
fatty acid oxidation
Online Access:https://www.mdpi.com/2077-0383/11/10/2933

Internet

https://www.mdpi.com/2077-0383/11/10/2933

Similar Items