title: Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter.
abstract: Endocardial fibroelastosis (EFE) has previously been shown to be associated with tissue carnitine deficiency, although the basis for the carnitine deficiency has not been documented. A patient with the classical features of EFE and marked deficiency of carnitine in heart muscle, skeletal muscle, and liver is presented in this report. Cultured skin fibroblasts from both parents demonstrated levels of carnitine uptake at 50% of the normal rate. This is consistent with heterozygosity for the plasma membrane carnitine transporter defect, indicating likely homozygosity for this recently recognized inborn error in the index patient.
authors.affiliation: Department of Pathology and Pediatrics, University of Texas Southwestern Medical Center at Dallas, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Bennett
authors.forename: D E
authors.initials: DE
authors.lastname: Hale
authors.forename: R J
authors.initials: RJ
authors.lastname: Pollitt
authors.forename: C A
authors.initials: CA
authors.lastname: Stanley
authors.forename: S
authors.initials: S
authors.lastname: Variend
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000209:etiology / Q000235:genetics; D002331:Carnitine / Q000172:deficiency* / Q000378:metabolism; D002462:Cell Membrane / Q000378:metabolism; D004695:Endocardial Fibroelastosis / Q000209:etiology* / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007473:Ion Channels / Q000235:genetics / Q000378:metabolism*; D017136:Ion Transport; D008099:Liver / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics; D018482:Muscle, Skeletal / Q000378:metabolism; D009206:Myocardium / Q000378:metabolism; D012867:Skin / Q000378:metabolism / Q000473:pathology
chemical_list: D007473:Ion Channels; D002331:Carnitine