Abnormal concentrations of esterified carnitine in bile: A feature of pediatric acute liver failure with poor prognosis

Hepatology

Volumn 41, Issue 4, 2005, Pages 717-721

  Shneider, Benjamin L ^a   Rinaldo, Piero ^b   Emre, Sukru ^a   Bucuvalas, John ^c   Squires, Robert ^d   Narkewicz, Michael ^e   Gondolesi, Gabriel ^a   Magid, Margret ^a   Morotti, Raffaella ^a   Hynan, Linda S ^f  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^e Children's Hospital Colorado   (United States)

^f UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE; LONG CHAIN FATTY ACID; MEDIUM CHAIN FATTY ACID;

ARTICLE; BILE; CAUSE OF DEATH; CHILD; CHOLESTEROL ESTERIFICATION; CLINICAL ARTICLE; CONTROLLED STUDY; DEATH; DISEASE COURSE; DISEASE PREDISPOSITION; FATTY ACID OXIDATION; FATTY ACID OXIDATION DEFECT; HUMAN; LIVER FAILURE; LIVER INJURY; LIVER TRANSPLANTATION; METABOLIC DISORDER; PRIORITY JOURNAL; PROGNOSIS; RISK ASSESSMENT;

BILE; CARNITINE; CASE-CONTROL STUDIES; CHILD; ESTERIFICATION; HUMANS; LIVER; LIVER FAILURE, ACUTE; LIVER TRANSPLANTATION; OSMOLAR CONCENTRATION; RETROSPECTIVE STUDIES; RISK;

EID: 20144388246     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1002/hep.20631     Document Type: Article

References (18)

1. Whitington PF, Soriano H, Alonso E: Fulminant hepatic failure in children. In: Suchy F, Sokol R, Balistreri W, eds. Liver Disease in Children. New York: Lippicott, Williams & Wilkins, 2001:63-88.
2. Eaton S, Bartlett K, Pourfarzam M. Mammalian mitochondrial beta-oxidation. Biochem J 1996;320:345-357.
3. Rinaldo P. Fatty acid transport and mitochondrial oxidation disorders. Semin Liver Dis 2001;21:489-500.
4. Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annu Rev Physiol 2002;64:477-502.
5. Perper JA, Ahdab-Barmada M. Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency. Am J Forensic Med Pathol 1992;13:329-334.
6. Brackett JC, Sims HF, Steiner RD, Nunge M, Zimmerman EM, deMartinville B, et al. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. J Clin Invest 1994;94:1477-1483.
7. Angelini C, Trevisan C, Isaya G, Pegolo G, Vergani L. Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency. Clin Biochem 1987;20:1-7.
8. Haworth JC, Demaugre F, Booth FA, Dilling LA, Moroz SP, Seshia SS, et al. Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family. J Pediatr 1992;121:553-557.
9. Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, et al. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 1999;340:1723-1731.
10. O'Brien L, Sims H, Charrow J, Alonso E, Rinaldo P, Bennett MJ, et al. Mutations in short chain L-3-hydroxyacyl-CoA dehydrogenase in a patient presenting with fulminant hepatic failure. Pediatr Res 1999;45:256.
11. Al Odaib A, Shneider BL, Bennett MJ, Pober BR, Reyes-Mugica M, Friedman AL, et al. A defect in the transport of long-chain fatty acids associated with acute liver failure. N Engl J Med 1998;339:1752-1757.
12. Baillet L, Mullur RS, Esser V, McGarry JD. Elucidation of the mechanism by which (+)-acylcarnitines inhibit mitochondrial fatty acid transport. J Biol Chem 2000;275:36766-36768.
13. Rashed MS, Ozand PT, Bennett MJ, Barnard JJ, Govindaraju DR, Rinaldo P. Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile. Clin Chem 1995;41:1109-1114.
14. Boles RG, Buck EA, Blitzer MG, Platt MS, Cowan TM, Martin SK, et al. Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life. J Pediatr 1998;132:924-933.
15. Rinaldo P, Hahn S, Matern D: Inborn errors of amino acid, organic acid, and fatty acid metabolism. In: Burtis C, Ashwood E, Tietz N, eds. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. 4th ed. Philadelphia: W.B. Saunders, 2005 (in press).
16. Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab 2000;71:10-18.
17. Lesna M, Watson AJ, Douglas AP, Hamlyn AN, James OF. Evaluation of paracetamol-induced damage in liver biopsies: acute changes and follow-up findings. Virchows Arch A Pathol Anat Histol 1976;370:333-344.
18. Portmann B, Talbot IC, Day DW, Davidson AR, Murray-Lyon IM, Williams R. Histopathological changes in the liver following a paracetamol overdose: correlation with clinical and biochemical parameters. J Pathol 1975;117:169-181.