Article
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Orphanet journal of rare diseases - 10 Jul 2013
Couce Maria Luz, Sánchez-Pintos Paula, Diogo Luisa, Leão-Teles Elisa, Martins Esmeralda, Santos Helena, Bueno Maria Amor, Delgado-Pecellín Carmen, Castiñeiras Daisy E, Cocho José A, García-Villoria Judit, Ribes Antonia, Fraga José M, Rocha Hugo
Abstract excerpt
BACKGROUND: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients.Newborn screening (NBS) has considerably improved MCADD outcome, but the risk of complication remains in some patients. The aim of this study was to evaluate the relationship between...
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