Urinary bile acid profile in children with inborn errors of bile acid metabolism and chronic cholestasis; screening technique using electrospray tandem mass-spectrometry (ES/MS/MS)

Medical Science Monitor

Volumn 9, Issue 3, 2003, Pages

  Yousef, Ibrahim M ^a,b   Perwaiz, Shahid ^a,b   Lamireau, Terry ^b   Tuchweber, Beatriz ^b  

^a UNIVERSITÉ DE MONTRÉAL   (Canada)

^b UNIVERSITY OF MONTREAL   (Canada)

Author keywords

Bile acids; Biliary atresia; Cholestasis; Electrospray tandem mass spectrometry; Liver diseases; Peroxisomal disorder

Indexed keywords

BILE ACID; STEROID REDUCTASE;

ARTICLE; BILE ACID METABOLISM; BILE DUCT ATRESIA; CHILD; CHOLESTASIS; CHRONIC LIVER DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; INTRAHEPATIC CHOLESTASIS; MASS SPECTROMETRY; PATHOLOGY; SCREENING; STEROID REDUCTASE DEFICIENCY; TYROSINEMIA; URINARY EXCRETION; ZELLWEGER SYNDROME;

BILE ACIDS AND SALTS; BILIARY ATRESIA; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHOLESTASIS; CHOLESTASIS, INTRAHEPATIC; CHRONIC DISEASE; HUMANS; LIVER DISEASES; METABOLISM, INBORN ERRORS; PEROXISOMAL DISORDERS; REFERENCE VALUES; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; SYNDROME; TYROSINEMIAS;

EID: 0037354742     PISSN: 12341010     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Russel DW, Setchell KD: Bile acid biosynthesis. Biochem, 1992; 31: 4737-49
2. Javitt NB: Bile acid synthesis from cholesterol: regulatory and auxiliary pathways. FASEB J, 1994; 8: 1308-11
3. Sauter GS, Fischer S, Pahernik S et al: Formation of cholic acid and chenodeoxycholic acid from 7, alpha-hydroxycholesterol and 27-hydroxycholesterol by primary cultures of human hepatocytes. Biochim Biophys Acta, 1996; 1300: 25-9
4. Lee C, Martin KO, Javitt NB: Bile acid synthesis: 7 alpha-hydroxylation of intermediates in the sterol 27-hydroxylase metabolic pathway. J Lipid Res, 1996; 37: 1356-62
5. Azer SA, Stacey NH: Current concepts of hepatic uptake, intracellular transport and biliary secretion of bile acids: physiological basis and pathophysiological changes in cholestatic liver dysfunction. J Gastroenterol Hepatol, 1996; 11: 396-407
6. Bjorkhem I: Inborn errors of metabolism with consequences for bile acid biosynthesis. Scand J Gastroenterol Suppl, 1994; 204: 68-72
7. Tint GS, Irons M, Elias E et al: Defective cholesterol biosynthesis associateed with the Smith-Lemli-Opitzsyndrome. N Engl J Med, 1994; 330: 107-13
8. Irons M, Elias E, salen G et al: Defective cholesterol biosynthesis in Smith-Lemli-Opitzsyndrome. Lancet, 1993; 341: 1414.
9. Shafer S, Salen G, Batta AK: Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest, 1995; 96: 1779-85
10. Terazawa S, Kimura A, Inoue T et al: An infant with 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase deficiency presenting with typical neonatal hepatitis syndrome: the first Japanese case. Acta Paediatr Jpn, 1998; 40: 638-40
11. Buchmann MS, Kvittingen EA, Nazer H et al: Lack of 3 beta-hydroxy-delta-5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism. J Clin Invest, 1990; 86: 2034-37
12. Jacquemin E, Setchell KDR, O'Connell NC et al: A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency. J Pediatr, 1994; 125: 379-84
13. Sieger B, Zhang J, O'Neil B et al: Differential interaction of bile acids from patients with inborn errors of bile acid synthesis with hepatocellular bile acid transporters. Eur J Biochem, 1997; 244: 39-44
14. Setchel KD, Suchy FJ, Welsh MB: ?4-3-oxosteroid 5 {beta-symbol}-reductase deficiency described in identical twins with neonatal hepatitis. J Clin Invest, 1988; 82: 2148-57
15. Clayton PT, Pater E, Lawson AM: ? 4-3-oxo-bile acids in liver disease. Lancet 1988; 4: 1283-84.
16. Ofrebro H, Bjorkhem I, Skerde S et al: Cerebrotendinous xanthomatosis: it detect in mitochondrial 27-hydroxylation required for normal biosynthesis of cholic acid. J Clin Invest. 1980; 65: 1418-30
17. Kim KS, Kubota S, Kurriyama M et al: Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). J Lipid Res. 1994; 35: 1031-39
18. Kase BF, Pedersen JL, Standvik B et al: In vivo and vitro studies on formation of bile acids in patients with Zellweger syndrome. Evidence that peroxisomes are of importance in the normal biosynthesis of both cholic and chenodeoxycholic acid. J Clin Invest, 1985; 76: 2393-402
19. Setchell KD, Schwarz M, O'Connell NC et al: Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. J Clin Invest, 1998; 102: 1690-703
20. Balistreri WF: Inborn errors of bile acid biosynthesis and transport. Novel forms of metabolic liver disease. Gastroenterol Clin North Am, 1999; 28: 145-72
21. Strautnieks SS, Bull LN, Knisely AS et al: A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet, 1998; 20: 233-38
22. Jansen PL, Strautnieks SS, Jacquemin E et al: Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology, 1999; 117: 1370-79
23. Jacquemin E: Progressive familial intrahepatic cholestasis. Genetic basis and treatment. Cli Liver Dis, 2000; 4: 753-63
24. Jacquemin E, Hermans D, Mgare A et al: Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology, 1997; 25: 519-23
25. Colombo C, Okolicsanyi L, Straazzab O: Advances in familial and congenital cholestatic diseases. Clinical and diagnostatic implication. Dig. Liver Dis, 2000; 32: 152-90
26. Meng LJ, Reges H, Palma J et al: Profile of bile acids and progesterone metabolites in pregnancy. J Hepatology, 1997; 27: 346-57
27. Perwaiz S, Tuchweber B, Mignault D et al: Determination of bile acids in biological fluids by liquid chromatography-electrospray tandem-mass spectrometry. J lipid Res, 2001; 42: 114-19
28. Evans JE, Ghosh A, Evans BA et al: Screening techniques for the detection of inborn errors of bile acids metabolism by direct injection and micro-high performance liquid chromatography-continuous flow/fast atom bombardment mass spectrometry. Biol mass spectro, 1993; 22: 331-37
29. Natowicz MR, Evans JE, Kelly RI et al: Urinary bile acids and peroxisomal bifunctional enzyme deficiency. Am J med genetics, 1996; 63: 356-62
30. Libert RD, Hermans J, Draye F et al: Bile acids and conjugates identified in metabolic disorders by fast atom bombardment and tandem mass spectrometry. Clin Chem, 1991; 37: 2102-10
31. Lawson AM, Madigan MJ, Shortland D et al: Rapid diagnosis of Zellweger syndrome and infantile Refsums disease by fast atom bombardment-mass spectrometry of urine bile salts. Clinica Chemica Acta, 1986; 61: 21-31
32. Ostrow JD: Metabolism of bile salts in cholestasis in humans. In: Tavolini N, Berk PD, Ed. The hepatic transport and bile secretion. Physiology and Pathophysiology. New York: Raven Press, 1993; 673-712
33. Bremmelgaard A, Sjovall J: Hydroxylation of cholic, chenodeoxycholic and deoxycholic acids in patients with intrahepatic cholestasis. J Lipid res, 1980; 21: 1071-81
34. Nemeth A, Strandvik B: Urinary excretion of tetrahydroxylated bile acids in children with alpha-1 antitrypsin deficiency and neonatal cholestasis. Scand. J Clin Lab Invest, 1984; 44: 387-92
35. Wang R, Salem M. Yousef IM et al: Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis. Proc Natl Acad Sci U S A, 2001; 98: 2011-16
36. Bates MD, Bucuvalas JC, Alonso MH et al: Biliary atresia: pathogenesis and treatment. Semin Liver Dis, 1998; 18: 281-93