Urine acylcarnitine analysis by ESI-MS/MS: A new tool for the diagnosis of peroxisomal biogenesis disorders

Clinica Chimica Acta

Volumn 398, Issue 1-2, 2008, Pages 86-89

  Duranti, Guglielmo ^a,c   Boenzi, Sara ^a   Rizzo, Cristiano ^a   Ravà, Lucilla ^a   Di Ciommo, Vincenzo ^a   Carrozzo, Rosalba ^a   Meschini, Maria Chiara ^a   Johnson, David W ^b   Dionisi Vici, Carlo ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^c UNIVERSITY OF ROME FORO ITALICO   (Italy)

Author keywords

Acylcarnitines; ESI MS MS; Infantile Refsum disease; Peroxisomal biogenesis disorders; Tandem mass spectrometry; Zellweger syndrome

Indexed keywords

ACYLCARNITINE;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; D BIFUNCTIONAL PROTEIN DEFICIENCY; DISORDERS OF PEROXISOMAL FUNCTIONS; ELECTROSPRAY MASS SPECTROMETRY; HUMAN; INFANTILE REFSUM DISEASE; PRIORITY JOURNAL; RANK SUM TEST; REACTION ANALYSIS; RELIABILITY; SENSITIVITY ANALYSIS; STATISTICAL ANALYSIS; TANDEM MASS SPECTROMETRY; URINE LEVEL; ZELLWEGER SYNDROME;

CARNITINE; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PEROXISOMAL DISORDERS; REFSUM DISEASE; REPRODUCIBILITY OF RESULTS; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TANDEM MASS SPECTROMETRY; ZELLWEGER SYNDROME;

EID: 54049091873     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2008.08.018     Document Type: Article

References (15)

1. Wanders R.J., Vreken P., Ferdinandusse S., et al. Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases. Biochem Soc Trans 29 (2001) 250-267
2. Ferdinandusse S., Denis S., Van Roermund C.W., Wanders R.J., and Dacremont G. Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids. J Lipid Res 45 (2004) 1104-1111
3. Reddy J.K., and Hashimoto T. Peroxisomal ß-oxidation and peroxisome proliferator-activated receptor: an adaptive metabolic system. Annu Rev Nutr 21 (2001) 193-230
4. Gould S.J., Raymond G.V., and Valle D. The peroxisome biogenesis disorders. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular bases of inherited disease. 8th ed. (2001), McGraw-Hill, New York, NY 3181-3217
5. Wanders R.J.A., Barth P.G., and Heymans H.A.S. Single peroxisomal disorders enzyme deficiencies. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular bases of inherited disease. 8th ed. (2001), McGraw-Hill, New York, NY 3219-3256
6. Steinberg S.J., Dodt G., Raymond G.V., Braverman N.E., Moser A.B., and Moser H.W. Peroxisome biogenesis disorders. Biochim Biophys Acta 1763 (2006) 1733-1748
7. Rizzo C., Boenzi S., Wanders R.J., Duran M., Caruso U., and Dionisi-Vici C. Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry. Pediatr Res 53 (2003) 1013-1018
8. Johnson D.W. Synthesis of dicarboxylic acylcarnitines. Chem Phys Lipids 129 (2004) 161-171
9. Chase D.H., Barr J.R., Duncan M.W., et al. Mass spectrometry in the clinical laboratory: general principles and guidance; approved guideline. CLSI document C50-A. Clinical and Laboratory Standard Institute vol. 27 (2007) 1-94
10. Carey R.N., Anderson F.P., George H., et al. User demonstration of performance for precision and accurancy; approved guidelines-second edition. CLSI document EP15-A2. Clinical and Laboratory Standard Institute vol. 25 (2005) 1-49
11. Tholen D.W., Linnet K., Kondratovich M., et al. Protocols for determination of limits of detection and limits of quantification; approved guideline. NCCLS document EP17-A. National Committee of Clinical and Laboratory Standards vol. 24 (2004) 1-39
12. Linnet K., and Kondratovich M. Partly nonparametric approach for determining the limit of detection. Clin Chem 50 (2004) 732-740
13. Kobayashi H., Hasegawa Y., Endo M., Purevsuren J., and Yamaguchi S. ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders. J Chromatogr B Analyt Technol Biomed Life Sci 855 (2007) 80-87
14. Mueller P., Schulze A., Schindler I., Ethofer T., Buehrdel P., and Ceglarek U. Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults. Clin Chim Acta 327 (2003) 47-57
15. Jiang L.L., Kurosawa T., Sato M., Suzuki Y., and Hashimoto T. Physiological role of D-3-hydroxyacyl-CoA dehydratase/ D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein. J Biochem 121 (1997) 506-513