Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

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...

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Bibliographic Details
Main Author: Couce, M. (author)
Other Authors: Sánchez-Pintos, P. (author), Diogo, L. (author), Leão-Teles, E. (author), Martins, E. (author), Santos, H. (author), Amor Bueno, M. (author), Delgado-Pecellín, C. (author), Castiñeiras, D. (author), Cocho, J. (author), García-Villoria, J. (author), Ribes, A. (author), Fraga, J. (author), Rocha, H (author)
Format: article
Language:eng
Published: 2014
Subjects:
L-carnitine
Metabolic decompensation
Mitochondrial fatty acid oxidation
Mutations
Newborn screening
Rare disease
Online Access:http://hdl.handle.net/10400.16/1693
Country:Portugal
Oai:oai:repositorio.chporto.pt:10400.16/1693

Internet

http://hdl.handle.net/10400.16/1693

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