Stability of acylcarnitines and free carnitine in dried blood samples: Implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency

Analytical Chemistry

Volumn 81, Issue 9, 2009, Pages 3571-3575

  Fingerhut, Ralph ^a,c   Ensenauer, Regina ^b   Röschinger, Wulf ^b   Arnecke, Ralf ^a   Olgemöller, Bernhard ^a   Roscher, Adelbert A ^b  

^a Laboratory Becker   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINES; BLOOD SAMPLES; BUTYL ESTER; CARNITINE; DERIVATIZATION; DRIED BLOOD SPOTS; ELECTROSPRAY IONIZATION TANDEM MASS SPECTROMETRY; ESI-MS/MS; FATTY ACID OXIDATION; INBORN ERRORS OF METABOLISMS; NEWBORN SCREENING; ROOM TEMPERATURE; TIME INTERVAL; WHOLE BLOOD;

BLOOD; DIAGNOSIS; ELECTROSPRAY IONIZATION; ESTERS; FATTY ACIDS; MASS SPECTROMETRY; METHANOL;

EXTRACTION;

ACYLCARNITINE; CARNITINE; CARNITINE TRANSPORTER; CARNITINE TRANSPORTER OCTN2; UNCLASSIFIED DRUG;

ACIDURIA; ARTICLE; BLOOD SAMPLING; CARNITINE TRANSPORTER DEFICIENCY; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DISEASE MARKER; ELECTROSPRAY MASS SPECTROMETRY; FATTY ACID OXIDATION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDROLYSIS; INBORN ERROR OF METABOLISM; MOLECULAR STABILITY; NEWBORN; NEWBORN SCREENING; RETROSPECTIVE STUDY; STANDARDIZATION; UNCERTAINTY;

CARNITINE; DESICCATION; HUMANS; INFANT, NEWBORN; LINEAR MODELS; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; ORGANIC CATION TRANSPORT PROTEINS; REPRODUCIBILITY OF RESULTS; RETROSPECTIVE STUDIES; SPECIMEN HANDLING; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TANDEM MASS SPECTROMETRY; TEMPERATURE;

EID: 66149140600     PISSN: 00032700     EISSN: None     Source Type: Journal    
DOI: 10.1021/ac8022235     Document Type: Article

References (16)

1. Chace, D. H.; Kalas, T. A.; Naylor, E. W. Clin. Chem. 2003, 49, 1797-1817.
2. Röschinger, W.; Olgem̈oller, B.; Fingerhut, R.; Liebl, B.; Roscher, A. A. Eur. J. Pediatr. 2003, 162, S67-76.
3. Chace, D. H.; DiPerna, J. C.; Mitchell, B. L.; Sgroi, B.; Hofman, L. F.; Naylor, E. W. Clin. Chem. 2001, 47, 1166-1182.
4. Johnson, D. W.; Trinh, M. H. J. Inherit. Metab. Dis. 2004, 27, 789-790.
5. Santer, R.; Fingerhut, R.; Lässker, U.; Wightman, P. J.; Fitzpatrick, D. R.; Olgemöller, B.; Roscher, A. A. Clin. Chem. 2003, 49, 660-662.
6. Strnadová, K. A.; Holub, M.; Mühl, A.; Heinze, G.; Ratschmann, R.; Mascher, H.; Stöckler-Ipsiroglu, S.; Waldhauser, F.; Votava, F.; Lebl, J.; Bodamer, O. A. Clin. Chem. 2007, 53, 717-722.
7. Johnson, D. W. J. Inherit. Metab. Dis. 1999, 22, 201-202.
8. Schimmenti, L. A.; Crombez, E. A.; Schwahn, B. C.; Heese, B. A.; Wood, T. C.; Schroer, R. J.; Bentler, K.; Cederbaum, S.; Sarafoglou, K.; McCann, M.; Rinaldo, P.; Matern, D.; di San Filippo, C. A.; Pasquali, M.; Berry, S. A.; Longo, N. Mol. Genet. Metab. 2007, 90, 441-445.
9. Tein, I. J. Inherit. Metab. Dis. 2003, 26, 147-169.
10. Levitan, M. D.; Murphy, J. T.; Sherwood, W. G.; Deck, J.; Sawa, G. M. J. Can. J. Neurol. Sci. 1987, 14, 50-54.
11. Fingerhut, R.; Röschinger, W.; Muntau, A. C.; Dame, T.; Kreischer, J.; Arnecke, R.; Superti-Furga, A.; Troxler, H.; Liebl, B.; Olgemöller, B.; Roscher, A. A. Clin. Chem. 2001, 47, 1763-1768.
12. Lamhonwah, A. M.; Olpin, S. E.; Pollitt, R.; Vianey-Saban, C.; Divry, P.; Guffon, N.; Besley, G. T.; Onizuka, R.; De Meirleir, L. J.; Cvitanovic-Sojat, L.; Baric, I.; Dionisi-Vici, C.; Fumic, K.; Maradin, M.; Tein, I. Am. J. Med. Genet. 2002, 111, 271-284.
13. Rinaldo, P.; Stanley, C. A.; Hsu, B. Y. L.; Sanchez, L. A.; Stern, H. J. J. Pediatr. 1997, 131, 304-305.
14. Barns, R. J.; Bowling, F. G.; Brown, G.; Clague, A. E.; Thompson, A. Clin. Chim. Acta 1991, 197, 27-34.
15. Stadler, S. C.; Polanetz, R.; Maier, E. M.; Heidenreich, S. C.; Niederer, B.; Mayerhofer, P. U.; Lagler, F.; Koch, H. G.; Santer, R.; Fletcher, J. M.; Ranieri, E.; Das, A. M.; Spiekerkötter, U.; Schwab, K. O.; Pötzsch, S.; Marquardt, I.; Hennermann, J. B.; Knerr, I.; Mercimek-Mahmutoglu, S.; Kohlschmidt, N.; Liebl, B.; Fingerhut, R.; Olgemöller, B.; Muntau, A. C.; Roscher, A. A.; Röschinger, W. Hum. Mutat. 2006, 27, 748-759.
16. Christensen, E.; Holm, J.; Hansen, S. H.; Sørensen, N.; Nezu, J.; Tsuki, A.; Skovby, F. J. Inherit. Metab. Dis. 2000, 23 (Suppl. 1), 117.