Ontology highlight
ABSTRACT:
SUBMITTER: Lovera C
PROVIDER: S-EPMC3502270 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Lovera Cristina C Porta Francesco F Caciotti Anna A Catarzi Serena S Cassanello Michela M Caruso Ubaldo U Gallina Maria Rita MR Morrone Amelia A Spada Marco M
Italian journal of pediatrics 20121024
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 around three to six months of life, following catabolic stress as intercurrent infections or prolonged fasting, whilst neonatal-onset of the disease is quite rare. We report the case of an apparently healt ...[more]