A useful multi-analyte blood test for cerebrotendinous xanthomatosis

Clinical Biochemistry

Volumn 47, Issue 9, 2014, Pages 860-863

  DeBarber, Andrea E ^a   Luo, Jenny ^a   Giugliani, Roberto ^b,c   Souza, Carolina F M ^c   Steiner, Robert D ^d,e  

^a Pei Wen)   (United States)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e MARSHFIELD CLINIC   (United States)

Author keywords

Bile acids; Cerebrotendinous xanthomatosis; Cholestanol; CYP27A1; Ketosterols

Indexed keywords

5 ALPHA CHOLESTANOL; 7ALPHA HYDROXYCHOLEST 4 EN 3 ONE; 7ALPHA,12ALPHA DIHYDROXY 5BETA CHOLESTAN 3 ONE; 7ALPHA,12ALPHA DIHYDROXYCHOLEST 4 EN 3 ONE; BILE ACID PRECURSOR; CHOLESTANOL; STEROL DERIVATIVE; UNCLASSIFIED DRUG; OXOSTEROID;

ADULT; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; DIAGNOSTIC TEST; ELECTROSPRAY; FEMALE; GAS CHROMATOGRAPHY; GENE MUTATION; GENETIC SCREENING; HUMAN; LIQUID CHROMATOGRAPHY; MULTI ANALYTE BLOOD TEST; PRIORITY JOURNAL; SIGNAL NOISE RATIO; TANDEM MASS SPECTROMETRY; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY; BLOOD; ELECTROSPRAY MASS SPECTROMETRY; STANDARD; STANDARDS; XANTHOMATOSIS, CEREBROTENDINOUS; YOUNG ADULT;

CHOLESTANOLS; FEMALE; HUMANS; KETOSTEROIDS; REFERENCE STANDARDS; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TANDEM MASS SPECTROMETRY; XANTHOMATOSIS, CEREBROTENDINOUS; YOUNG ADULT;

EID: 84902678677     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2014.04.017     Document Type: Article

References (15)

1. Gallus G.N., Dotti M.T., Mignarri A., Rufa A., Da P.P., Cardaioli E., et al. Four novel CYP27A1 mutations in seven Italian patients with CTX. Eur J Neurol 2010, 17:1259-1262.
2. Berginer V.M., Salen G., Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 1984, 311:1649-1652.
3. Mondelli M., Sicurelli F., Scarpini C., Dotti M.T., Federico A. Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study. J Neurol Sci 2001, 190:29-33.
4. Leitersdorf E., Safadi R., Meiner V., Reshef A., Bjorkhem I., Friedlander Y., et al. Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics. Am J Hum Genet 1994, 55:907-915.
5. Salen G. Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. Ann Intern Med 1971, 75:843-851.
6. Egestad B., Pettersson P., Skrede S., Sjovall J. Fast atom bombardment mass spectrometry in the diagnosis of cerebrotendinous xanthomatosis. Scand J Clin Lab Invest 1985, 45:443-446.
7. DeBarber A.E., Connor W.E., Pappu A.S., Merkens L.S., Steiner R.D. ESI-MS/MS quantification of 7alpha-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis. Clin Chim Acta 2010, 411:43-48.
8. DeBarber A.E., Sandlers Y., Pappu A.S., Merkens L.S., Duell P.B., Lear S.R., et al. Profiling sterols in cerebrotendinous xanthomatosis: utility of Girard derivatization and high resolution exact mass LC-ESI-MS(n) analysis. J Chromatogr B Analyt Technol Biomed Life Sci 2011, 879:1384-1392.
9. DeBarber A.E., Luo J., Star-Weinstock M., Purkayastha S., Geraghty M.T., Chiang J.P., et al. A Blood Test for Cerebrotendinous Xanthomatosis with Potential for Disease Detection in Newborns. J Lipid Res 2014, 55(1):146-154.
10. Kuriyama M., Fujiyama J., Yoshidome H., Takenaga S., Matsumuro K., Kasama T., et al. Cerebrotendinous xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature. J Neurol Sci 1991, 102:225-232.
11. Koopman B.J., van der Molen J.C., Wolthers B.G., de Jager A.E., Waterreus R.J., Gips C.H. Capillary gas chromatographic determination of cholestanol/cholesterol ratio in biological fluids. Its potential usefulness for the follow-up of some liver diseases and its lack of specificity in diagnosing CTX (cerebrotendinous xanthomatosis). Clin Chim Acta 1984, 137:305-315.
12. de Sain-van der Velden M.G., Verrips A., Prinsen B.H., de B.M., Berger R., Visser G. Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX. J Inherit Metab Dis 2008, 2:S387-S393.
13. Bjorkhem I., Oftebro H., Skrede S., Pedersen J.I. Assay of intermediates in bile acid biosynthesis using isotope dilution-mass spectrometry: hepatic levels in the normal state and in cerebrotendinous xanthomatosis. J Lipid Res 1981, 22:191-200.
14. Clayton P.T., Verrips A., Sistermans E., Mann A., Mieli-Vergani G., Wevers R. Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. J Inherit Metab Dis 2002, 25:501-513.
15. Honda A., Salen G., Matsuzaki Y., Batta A.K., Xu G., Leitersdorf E., et al. Differences in hepatic levels of intermediates in bile acid biosynthesis between Cyp27(-/-) mice and CTX. J Lipid Res 2001, 42:291-300.