A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: Diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency

Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids

Volumn 1584, Issue 2-3, 2002, Pages 91-98

  Okun, Jürgen G ^a   Kölker, Stefan ^a   Schulze, Andreas ^a   Kohlmüller, Dirk ^a   Olgemöller, Katharina ^a   Lindner, Martin ^a   Hoffmann, Georg F ^a   Wanders, Ronald J A ^b   Mayatepek, Ertan ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Acylcarnitine profiling; Beta oxidation; Human skin fibroblast; Medium chain acyl CoA dehydrogenase deficiency; Palmitic acid; Tandem mass spectrometry

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; BUTYRYLCARNITINE; CARNITINE ACYLTRANSFERASE; CARNITINE DERIVATIVE; CARNITINE PALMITOYLTRANSFERASE; DECANOYLCARNITINE; OCTANOYLCARNITINE; PALMITIC ACID; UNCLASSIFIED DRUG;

ANALYTIC METHOD; ARTICLE; BIOCHEMISTRY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FATTY ACID OXIDATION DISORDER; FIBROBLAST; HOMOZYGOSITY; HUMAN; HUMAN CELL; MASS SPECTROMETRY; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METABOLIC DISORDER; PHENOTYPE; PRIORITY JOURNAL; RELIABILITY;

ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASES; CARNITINE; CELLS, CULTURED; FIBROBLASTS; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIA; PALMITIC ACID; PHENOTYPE; SENSITIVITY AND SPECIFICITY; SKIN; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 0037057759     PISSN: 13881981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1388-1981(02)00296-2     Document Type: Article

References (20)

1. Gregersen N., Winter V., Curtis D., Deufel T., Mack M., Hendrickx J., Willems P.J., Ponzone A., Parella T., Ponzone R., Ding J.H., Zhang W., Chen Y.T., Kahler S., Roe C.R., Kølvraa S., Schneiderman K., Andresen B.S., Bross P., Bolund L. Hum. Hered. 43:1993;342-350.
2. Pollitt R.J., Leonard J.V. Arch. Dis. Child. 79:1998;116-119.
3. Seddon H.R., Green A., Gray R.G.F., Leonard J.V., Pollitt R.J. Regional variations in medium-chain acyl-CoA dehydrogenase-deficiency. Lancet. 345:1995;135-136.
4. Tanaka K., Gregersen N., Ribes A., Kim J., Kølvraa S., Winter V., Eiberg H., Martinez G., Deufel T., Leifert B., Santer R., Francois B., Pronicka E., Laszlo A., Kmoch S., Kremensky I., Kalaydjicva L., Ozalp I., Ito M. Pediatr. Res. 41:1997;201-219.
5. Andresen B.S., Dobrowolski S.F., O'Reilly L., Muenzer J., McCandless S.E., Frazier D.M., Udvari S., Bross P., Knudsen I., Banas R., Chace D.H., Engel P., Naylor E.W., Gregersen N. Am. J. Hum. Genet. 68:2001;1408-1418.
6. Wilcken B., Carpenter K.H., Hammond J. Arch. Dis. Child. 69:1993;292-294.
7. Ruitenbeek W., Poels P.J.E., Turnbull C.M., Garavaglia B., Chalmers R.A., Taylor R.W., Gabreels F.J. J. Neurol. Neurosurg. Psychiatry. 58:1995;209-214.
8. Roe C.R., Ding J. Mitochondrial fatty acid disorders. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Diseases. 8th ed. 2001;2297-2326 McGraw-Hill, New York.
9. Iafolla A.K., Thompson R.J., Roe C.R. J. Pediatr. 124:1994;409-415.
10. Chace D.H., Hillman S.L., Van Hove J.L.K., Naylor E.W. Clin. Chem. 43:1997;2106-2113.
11. Carpenter K., Wiley V., Sim K.G., Heath D., Wilcken B. Arch. Dis. Child., Fetal Neonatal Ed. 85:2001;F105-F109.
12. Zschocke J., Schulze A., Lindner M., Fiesel S., Olgemöller K., Hoffmann G.F., Penzien J., Ruiter J.P., Wanders R.J., Mayatepek E. Hum. Genet. 108:2001;404-408.
13. Wanders R.J.A., Vreken P., Den Boer M.E.J., Wijburg F.A., Van Gennip A.H., Ijlst L. J. Inherit. Metab. Dis. 22:1999;442-487.
14. Kölker S., Okun J.G., Hörster F., Assmann B., Ahlemeyer B., Kohlmüller D., Exner-Camps S., Mayatepek E., Krieglstein J., Hoffmann G.F. J. Neurosci. Res. 66:2001;666-672.
15. Ventura F.V., Costa C.G., Struys E.A., Ruiter J., Allers P., Ijlst L.et al. Clin. Chim. Acta. 281:1999;1-17.
16. Rashed M.S., Ozand P.T., Bucknall M.P., Little D. Pediatr. Res. 38:1995;324-331.
17. Schulze A., Kohlmueller D., Mayatepek E. Clin. Chim. Acta. 283:1999;15-20.
18. Lowry O.H., Roseborough N.R., Farr A.J. J. Biol. Chem. 193:1951;265-275.
19. Helenius A., Simons K. J. Biol. Chem. 247:1972;3656-3661.
20. Pourfarzam M., Morris A., Appleton M., Craft A., Bartlett K. Lancet. 358:2001;1063-1064.