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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Detalhes bibliográficos
Main Authors: Lovera, Cristina, Porta, Francesco, Caciotti, Anna, Catarzi, Serena, Cassanello, Michela, Caruso, Ubaldo, Gallina, Maria Rita, Morrone, Amelia, Spada, Marco
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3502270/
https://ncbi.nlm.nih.gov/pubmed/23095120
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1824-7288-38-59
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