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The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiency. 1998

C G Costa, and L Dorland, and I T de Almeida, and C Jakobs, and M Duran, and B T Poll-The
Free University Hospital, Department of Clinical Chemistry, Amsterdam, The Netherlands.

We studied a 10-year-old patient with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency who was originally (mis)diagnosed as having systemic carnitine deficiency. He was subjected to a fasting test, a long-chain triglyceride (LCT) loading test (1.5 g/kg) and an intravenous carnitine clearance test (0.25 mumol/kg per min). Plasma acylcarnitines were analysed using a quantitative GC-CI-MS method. During fasting, all long-chain acylcarnitines with a chain length of C14 and higher (especially C14:1) increased dramatically. Total plasma long-chain acylcarnitine reached a concentration of 28.6 mumol/L. LCT loading resulted in a moderate increase, mainly of the C18 esters. The carnitine infusion, which led to a supranormal plasma free carnitine concentration, gave only a slight but generalized rise of long-chain acylcarnitines. Although only one patient could be tested, the results suggest that the accumulation of potentially toxic long-chain acylcarnitines in VLCAD deficiency is provoked by fasting, LCT loading and carnitine supplementation. Therapy should be adjusted accordingly.

UI MeSH Term Description Entries
D008297 Male Males
D008928 Mitochondria Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed) Mitochondrial Contraction,Mitochondrion,Contraction, Mitochondrial,Contractions, Mitochondrial,Mitochondrial Contractions
D002331 Carnitine A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism. Bicarnesine,L-Carnitine,Levocarnitine,Vitamin BT,L Carnitine
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003951 Diagnostic Errors Incorrect or incomplete diagnoses following clinical or technical diagnostic procedures. Diagnostic Blind Spots,Errors, Diagnostic,Misdiagnosis,Blind Spot, Diagnostic,Blind Spots, Diagnostic,Diagnostic Blind Spot,Diagnostic Error,Error, Diagnostic,Misdiagnoses
D005215 Fasting Abstaining from FOOD. Hunger Strike,Hunger Strikes,Strike, Hunger,Strikes, Hunger
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014280 Triglycerides An ester formed from GLYCEROL and three fatty acid groups. Triacylglycerol,Triacylglycerols,Triglyceride
D042964 Acyl-CoA Dehydrogenase A flavoprotein oxidoreductase that has specificity for medium-chain fatty acids. It forms a complex with ELECTRON TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE. Acyl-coenzyme A Dehydrogenase,Fatty-acyl CoA Dehydrogenase,MCACA-Dehydrogenase,Medium Chain Acyl-CoA Dehydrogenase,Medium-Chain Acyl-CoA Dehydrogenase,Medium-Chain Acyl-Coenzyme A Dehydrogenase,Octanoyl-CoA Dehydrogenase,Palmitoyl-CoA Dehydrogenase,Acyl CoA Dehydrogenase,Acyl coenzyme A Dehydrogenase,Acyl-CoA Dehydrogenase, Medium-Chain,CoA Dehydrogenase, Fatty-acyl,Dehydrogenase, Acyl-CoA,Dehydrogenase, Acyl-coenzyme A,Dehydrogenase, Fatty-acyl CoA,Dehydrogenase, Medium-Chain Acyl-CoA,Dehydrogenase, Octanoyl-CoA,Dehydrogenase, Palmitoyl-CoA,Fatty acyl CoA Dehydrogenase,MCACA Dehydrogenase,Medium Chain Acyl CoA Dehydrogenase,Medium Chain Acyl Coenzyme A Dehydrogenase,Octanoyl CoA Dehydrogenase,Palmitoyl CoA Dehydrogenase
D044942 Acyl-CoA Dehydrogenase, Long-Chain A flavoprotein oxidoreductase that has specificity for long-chain fatty acids. It forms a complex with ELECTRON-TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE. Long-Chain-Acyl-CoA Dehydrogenase,Decanoyl CoA Dehydrogenase,Decanoyl CoA-Dehydrogenase,Long-Chain-Acyl-Coenzyme A Dehydrogenase,VLCAD,Very-Long-Chain Acyl-CoA Dehydrogenase,Acyl CoA Dehydrogenase, Long Chain,Acyl-CoA Dehydrogenase, Very-Long-Chain,CoA Dehydrogenase, Decanoyl,CoA-Dehydrogenase, Decanoyl,Dehydrogenase, Decanoyl CoA,Dehydrogenase, Long-Chain Acyl-CoA,Dehydrogenase, Long-Chain-Acyl-CoA,Dehydrogenase, Long-Chain-Acyl-Coenzyme A,Dehydrogenase, Very-Long-Chain Acyl-CoA,Long Chain Acyl CoA Dehydrogenase,Long Chain Acyl Coenzyme A Dehydrogenase,Long-Chain Acyl-CoA Dehydrogenase,Very Long Chain Acyl CoA Dehydrogenase

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