TY - JOUR
T1 - Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
AU - Van Hove, J. L.K.
AU - Kahler, S. G.
AU - Feezor, M. D.
AU - Ramakrishna, J. P.
AU - Hart, P.
AU - Treem, W. R.
AU - Shen, J. J.
AU - Matern, D.
AU - Millington, D. S.
PY - 2000
Y1 - 2000
N2 - The acylcarnitines in plasma and blood spots of 23 patients with proven deficiency of long-chain 3-hydroxyacylcoenzyme A dehydrogenase were reviewed. Long-chain 3-hydroxyacylcarnitines of C(14:1), C14, C16 and C(18:1) chain length, and long-chain acylcarnitines of C12, C(14:1), C14, C16, C(18:2) and C(18:1) chain length were elevated. Acetylcarnitine was decreased. In plasma, elevation of hydroxy-C(18:1) acylcarnitine over the 95th centile of controls, in combination with an elevation of two of the three acylcarnitines C14, C(14:1) and hydroxy-C16, identified over 85% of patients with high specificity (less than 0.1% false positive rate). High endogenous levels of long-chain acylcarnitines in normal erythrocytes reduced the diagnostic specificity in blood spots compared with plasma samples. The results were also diagnostic in asymptomatic patients, and were not influenced by genotype. Treatment with diet low in fat and high in medium-chain triglyceride decreased all disease-specific acylcarnitines, often to normal, suggesting that this assay is useful in treatment monitoring.
AB - The acylcarnitines in plasma and blood spots of 23 patients with proven deficiency of long-chain 3-hydroxyacylcoenzyme A dehydrogenase were reviewed. Long-chain 3-hydroxyacylcarnitines of C(14:1), C14, C16 and C(18:1) chain length, and long-chain acylcarnitines of C12, C(14:1), C14, C16, C(18:2) and C(18:1) chain length were elevated. Acetylcarnitine was decreased. In plasma, elevation of hydroxy-C(18:1) acylcarnitine over the 95th centile of controls, in combination with an elevation of two of the three acylcarnitines C14, C(14:1) and hydroxy-C16, identified over 85% of patients with high specificity (less than 0.1% false positive rate). High endogenous levels of long-chain acylcarnitines in normal erythrocytes reduced the diagnostic specificity in blood spots compared with plasma samples. The results were also diagnostic in asymptomatic patients, and were not influenced by genotype. Treatment with diet low in fat and high in medium-chain triglyceride decreased all disease-specific acylcarnitines, often to normal, suggesting that this assay is useful in treatment monitoring.
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U2 - 10.1023/A:1005673828469
DO - 10.1023/A:1005673828469
M3 - Article
C2 - 11032332
AN - SCOPUS:0033801802
SN - 0141-8955
VL - 23
SP - 571
EP - 582
JO - Journal of inherited metabolic disease
JF - Journal of inherited metabolic disease
IS - 6
ER -