Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report

Primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation caused by mutations in the SLC22A5 gene encoding for the carnitine transporter OCTN2. Carnitine uptake deficiency results in renal carnitine wasting and low plasma levels. PCD usually presents early in life...

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Veröffentlicht in:	JIMD Reports - Case and Research Reports, 2011/2 2011/2, 2012-01, Vol.2, p.87-90
Hauptverfasser:	De Biase, Irene, Champaigne, Neena Lorenzana, Schroer, Richard, Pollard, Laura Malinda, Longo, Nicola, Wood, Tim
Format:	Artikel
Sprache:	eng
Schlagworte:	Carnitine Deficiency Carnitine Supplementation Free Carnitine SLC22A5 Gene Syncopic Episode
Online-Zugang:	Volltext
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