title: Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy.
abstract: Blood spot carnitine profiles are widely used to screen for disorders of fatty acid oxidation. This case report emphasizes that a borderline concentration of free carnitine does not exclude the diagnosis of primary carnitine deficiency. Concurrent measurement of carnitine in the plasma and urine is a more sensitive test.
authors.affiliation: Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, Imperial College, Du Cane Road, London, W12 0HN, UK.
authors.forename: M
authors.initials: M
authors.lastname: Kinali
authors.forename: S E
authors.initials: SE
authors.lastname: Olpin
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
authors.forename: P E F
authors.initials: PE
authors.lastname: Daubeney
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: A Y
authors.initials: AY
authors.lastname: Manzur
authors.forename: I
authors.initials: I
authors.lastname: Tein
authors.forename: J
authors.initials: J
authors.lastname: Leonard
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D002331:Carnitine / Q000097:blood / Q000172:deficiency*; D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D004452:Echocardiography; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D027701:Organic Cation Transport Proteins / Q000172:deficiency / Q000235:genetics; D000074058:Solute Carrier Family 22 Member 5
chemical_list: D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D002331:Carnitine