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

• Autores principales: Lovera Cristina (Autor), Porta Francesco (Autor), Caciotti Anna (Autor), Catarzi Serena (Autor), Cassanello Michela (Autor), Caruso Ubaldo (Autor), Gallina Maria (Autor), Morrone Amelia (Autor), Spada Marco (Autor)
• Formato: Libro
• Publicado: BMC, 2012-10-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

<p>Abstract</p> <p>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. M...