Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy.
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.
Kinali
M
M
Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, Imperial College, Du Cane Road, London, W12 0HN, UK.
Olpin
S E
SE
Clayton
P T
PT
Daubeney
P E F
PE
Mercuri
E
E
Manzur
A Y
AY
Tein
I
I
Leonard
J
J
Muntoni
F
F
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
D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D002331:Carnitine