Article
Genotype-phenotype correlation in primary carnitine deficiency.
Human mutation - 1 Jan 2012
Rose Emily C, di San Filippo Cristina Amat, Ndukwe Erlingsson Uzochi C, Ardon Orly, Pasquali Marzia, Longo Nicola
Abstract excerpt
Primary carnitine deficiency is caused by defective OCTN2 carnitine transporters encoded by the SLC22A5 gene. Lack of carnitine impairs fatty acid oxidation resulting in hypoketotic hypoglycemia, hepatic encephalopathy, skeletal and cardiac myopathy. Recently, asymptomatic mothers with primary carnitine deficiency were identified by low carnitine levels in their infant by newborn screening. Here, we evaluate...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.