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2014, Number 1

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Rev Cub Gen 2014; 8 (1)

Determination of long-chain fatty acids in serum by gas chromatography coupled to mass spectrometry

Nuevas PL, Camayd VI

Language: Spanish
References: 24
Page: 19-26
PDF size: 458.88 Kb.


ABSTRACT

The quantification of long-chain fatty acids is fundamental for the diagnosis of several peroxisome disorders, particularly those in which the β-oxidation peroxisome of fatty acids is affected. In this work the implementation of an analytical method for the determination of these markers in serum by gas chromatography coupled to mass spectrometry is described. Besides, samples from patients with a diagnostic impression of adrenoleukodystrophy linked to the X chromosome were analyzed. The necessary experimental conditions were achieved for the separation and quantification of C22:0, C24:0 and C26:0 fatty acids in serum, which are biochemical markers of various peroxisome diseases. The application of this method allowed confirming the diagnosis of three patients with a diagnostic impression of adrenoleukodystrophy linked to the X chromosome. The application of the method in daily practice will allow the Cuban medical system to count on a new laboratory parameter for the diagnosis of peroxisome disorders.


REFERENCES

  1. Amorosi CA, Treslova H, Dodelson de Kremer R, Coll MJ, Dvorakova L, Oller Ramirez AM. Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. Hum Genet. 2011;127(4):486.

  2. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. [último acceso: abril de 2013.]. Disponible en: http://omim.org/.

  3. Orphanet Report Series-Prevalence of rare diseases: Bibliographic data. Última actualización: 2014; disponible en: http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence of are diseases by alphabetical list.pdf.

  4. Bezman L, Moser AB, Raymond GV, Rinaldo P, Watkins PA, Smith KD, et al. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol. 2001;49(4):512-7.

  5. X-linked Adrenoleukodystrophy Database. [último acceso: febrero de 2013]. Disponible en: http://www.x-ald.nl/.

  6. Coll MJ, Palau N, Camps C, Ruiz M, Pampols T, Giros M. X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. Clin Genet. 2005;67(5):418-24.

  7. Moser H, Smith K, Watkins P, Powers J, Moser A. X-linked adrenoleukodystrophy. En: Scriver C, Beaudet A, Sly W, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p. 3257-301.

  8. Steinberg SJ, Moser AB, Raymond GV. X-Linked Adrenoleukodystrophy. En: Pagon RA, Adam MP, Bird TD, editores. GeneReviews™. University of Washington, Seattle (WA); consultado el: 2 de diciembre de 2013; disponible en: http://www.ncbi.nlm.nih.gov/books/NBK1315/.

  9. Niizuma H, Uematsu M, Sakamoto O, Uchiyama T, Horino S, Onuma M, et al. Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages. Pediatr Transplant. 2011;16(2):E63-70.

  10. Polgreen LE, Chahla S, Miller W, Rothman S, Tolar J, Kivisto T, et al. Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes. Eur J Pediatr. 2011;170(8):1049-54.

  11. Cartier N, Aubourg P. Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy. Brain Pathol. 2010;20(4):857-62.

  12. Theda C, Gibbons K, Defor TE, Donohue PK, Golden WC, Kline AD, et al. Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible. Mol Genet Metab. 2014.

  13. Sandlers Y, Moser AB, Hubbard WC, Kratz LE, Jones RO, Raymond GV. Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy. Mol Genet Metab. 2012;105(3):416-20.

  14. Haynes CA, De Jesus VR. Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening. Clin Chim Acta. 2012;413(15-16):1217-21.

  15. Shimozawa N. Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases. Brain Dev. 2011;33(9):770-6.

  16. Berger J, Gartner J. X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects. Biochim Biophys Acta. 2006;1763(12):1721-32.

  17. Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, et al. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis. 2012;7:51.

  18. Moser AB, Kreiter N, Bezman L, Lu S, Raymond GV, Naidu S, et al. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol. 1999;45(1):100-10.

  19. Moser H, Moser A. Measurement of Saturated Very Long Chain Fattty Acids in Plasma. En: Hommes FA, editor. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, Inc.; 1991. p. 177-91.

  20. ICH Steering Committee. International Conference of Harmonization (ICH). Validation of Analytical Procedures:Text and Methodology. consultado el: 25 de julio de 2014; disponible en: http://www.ich.org/fileadmin/Public Web Site/ICH Products/Guidelines/Quality/Q2 R1/Step4/Q2 R1 Guideline.pdf.

  21. Huber L. Validation and qualification in analytical laboratories. Inc IP, editor.; 1999.

  22. Cappa M, Bizzarri C, Petroni A, Carta G, Cordeddu L, Valeriani M, et al. A mixture of oleic, erucic and conjugated linoleic acids modulates cerebrospinal fluid inflammatory markers and improve somatosensorial evoked potential in X-linked adrenoleukodystrophy female carriers. J Inherit Metab Dis. 2011;35(5):899-907.

  23. Poulos A, Gibson R, Sharp P, Beckman K, Grattan-Smith P. Very long chain fatty acids in X-linked adrenoleukodystrophy brain after treatment with Lorenzo's oil. Ann Neurol. 1994;36(5):741-6.

  24. Steinberg SJ, Kemp S, Braiterman LT, Watkins PA. Role of very-long-chain acyl-coenzyme A synthetase in X-linked adrenoleukodystrophy. Ann Neurol. 1999;46(3):409-12.




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