Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype

Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden death. MCAD deficiency usually presents aroun...

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Detalles Bibliográficos
Autores principales: Lovera, Cristina, Porta, Francesco, Caciotti, Anna, Catarzi, Serena, Cassanello, Michela, Caruso, Ubaldo, Gallina, Maria Rita, Morrone, Amelia, Spada, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502270/
https://www.ncbi.nlm.nih.gov/pubmed/23095120
http://dx.doi.org/10.1186/1824-7288-38-59

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502270/
https://www.ncbi.nlm.nih.gov/pubmed/23095120
http://dx.doi.org/10.1186/1824-7288-38-59

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