Carnitine supplementation for inborn errors of metabolism

Cochrane Database of Systematic Reviews

Volumn , Issue 2, 2009, Pages

  Nasser, Mona ^a   Javaheri, Hoda ^b   Fedorowicz, Zbys ^c   Noorani, Zaman ^d  

^a INSTITUTE FOR QUALITY AND EFFICIENCY IN HEALTH CARE IQWIG   (Germany)

^b ANIMAL SCIENCE RESEARCH INSTITUTE   (Iran)

^c Ministry of Health   (Bahrain)

^d Ciris Clinic   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CARNITINE; GLUTARYL COENZYME A DEHYDROGENASE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL; VITAMIN B COMPLEX;

ACIDURIA; ALANINE AMINOTRANSFERASE BLOOD LEVEL; AMINO ACID BLOOD LEVEL; ASCITES; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; ATTENTION; BIBLIOGRAPHIC DATABASE; BODY HEIGHT; BODY MASS; CARNITINE DEFICIENCY; CARNITINE TRANSPORTER DISORDER; CHOLESTEROL BLOOD LEVEL; CLINICAL TRIAL; COCHRANE LIBRARY; CYSTIC FIBROSIS; DATA ANALYSIS; DATA EXTRACTION; DATA SYNTHESIS; DIALYSIS; DIET SUPPLEMENTATION; DIET THERAPY; DIFFERENTIAL DIAGNOSIS; DRUG EFFICACY; DRUG SAFETY; DYSLIPIDEMIA; ENDURANCE; ENZYME DEFICIENCY; FACE DYSMORPHIA; FATTY ACID METABOLISM; FEEDING BEHAVIOR; FETUS HYDROPS; GENETIC DISORDER; GLUTARIC ACIDURIA TYPE I; HOSPITAL ADMISSION; HUMAN; INBORN ERROR OF METABOLISM; INFORMATION PROCESSING; INTELLIGENCE QUOTIENT; LEARNING; MEDLINE; METABOLIC DISORDER; MORTALITY; MUSCLE HYPOTONIA; MUSCLE STRENGTH; NUTRITIONAL STATUS; OUTCOME ASSESSMENT; PRENATAL SCREENING; PREVALENCE; QUALITY OF LIFE; REVIEW; SEIZURE; SENSITIVITY ANALYSIS; SYSTEMATIC ERROR; SYSTEMATIC REVIEW; TREATMENT RESPONSE; TRIACYLGLYCEROL BLOOD LEVEL; VERBAL BEHAVIOR; VERBAL MEMORY; WEIGHT GAIN; DRUG INFORMATION; DRUG RESEARCH;

CARNITINE; DIETARY SUPPLEMENTS; HUMANS; METABOLISM, INBORN ERRORS; VITAMIN B COMPLEX;

EID: 70349154213     PISSN: 1469493X     EISSN: None     Source Type: Journal    
DOI: 10.1002/14651858.CD006659.pub2     Document Type: Review

References (54)

1. Angelini C, Trevisan C, Isaya G, Pegolo G, Vergani L. Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency. Clinical Biochemistry 1987;29(1):1-7. (Pubitemid 17038305)
2. Baric I, Zschocke J, Christensen E, Duran M, Goodman SI, Leonard JV, et al.Diagnosis and management of glutaric aciduria type I. Journal of Inherited Metabolic Disease 1998;21(4):326-340 (Pubitemid 28356415)
3. Bhuiyan AK, Jackson S, Turnbull DM, Aynsley-Green A, Leonard JV, Bartlett K. The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation. Clinica Chimica Acta 1992;207(3):185-204.
4. Bjugstad KB, Goodman SI, Freed CR. Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1. Journal of Pediatrics 2000;137(5):681-686
5. Bohles H, Ullrich K, Endres W, Behbehani AW, Wendel U. Inadequate iron availability as a possible cause of low serum carnitine concentrations in patients with phenylketonuria. European Journal of Pediatrics 1991;150(6):425-428
6. Bowyer BA, Fleming CR, Haymond MW, Miles JM. L-carnitine: effect of intravenous administration on fuel homeostasis in normal subjects and home-parenteral-nutrition patients with low plasma carnitine concentrations. American Journal of Clinical Nutrition 1989; 49(4):618-623
7. Chazot C, Blanc C, Hurot JM, Charra B, Jean G, Laurent G. Nutritional effects of carnitine supplementation in hemodialysis patients. Clinical Nephrology 2006;59(1):24-30.
8. Cruciani RA, Dvorkin E, Homel P, Culliney B, Malamud S, Shaiova L, et al.L-carnitine supplementation for the treatment of fatigue and depressed mood in cancer patients with carnitine deficiency: a preliminary analysis. Annals of the New York Academy of Sciences 2004; 1033:168-176 (Pubitemid 39656749)
9. Ellaway CJ, Peat J, Williams K, Leonard H, Christodoulou J. Rett syndrome: randomized controlled trial of L-carnitine. Journal of Child Neurology 1999;14(3):162-167 (Pubitemid 29146696)
10. Gillingham MB, Connor WE, Matern D, Rinaldo P, Burlingame T, Meeuws K, et al.Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Molecular Genetics & Metabolism 2003;79(2):114-123 (Pubitemid 36693930)
11. Goa KL, Brogden RN. l-Carnitine. A preliminary review of its pharmacokinetics, and its therapeutic use in ischaemic cardiac disease and primary and secondary carnitine deficiencies in relationship to its role in fatty acid metabolism. Drugs 1987;34(1):1-24.
12. Huidekoper HH, Schneider J, Westphal T, Vaz FM, Duran M, Wijburg FA. Prolongedmoderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency. Journal of Inherited Metabolic Disease 2006;29(5):631-636 (Pubitemid 44390425)
13. Igarashi N, Sato T, Kyouya S. Secondary carnitine deficiency in handicapped patients receiving valproic acid and/or elemental diet. Acta Paediatrica Japonica 1990;32(2):139-145 (Pubitemid 20367636)
14. Kelley RI. The role of carnitine supplementation in valproic acid therapy. Pediatrics 1994;93(6):1174-1175
15. Kolker S, Burgard P, Okun JG, Schulze-Bergkamen A, Assmann B, Greenberg CR, et al.Looking forward-an evidence-based approach to glutaryl-CoA dehydrogenase deficiency. Journal of Inherited Metabolic Disease 2004;27(6):921-926 (Pubitemid 39433629)
16. Krähenbühl S. [Carnitine: vitamin or doping?]. Therapeutische Umschau 1995;52(10):687-692
17. Lee PJ, Harrison EL, Jones MG, Jones S, Leonard JV, Chalmers RA. L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study. Journal of Inherited Metabolic Disease 2005;28(2):141-152 (Pubitemid 40723882)
18. Maebashi M, Kawamura N, Sato M, Imamura A, Yoshinaga K. Lipid-lowering effect of carnitine in patients with type-IV hyperlipoproteinaemia. Lancet 1978;2(8094):805-807 (Pubitemid 9054598)
19. Mayer G, Graf H, Legenstein E, Linhart L, Auer B, Lohninger A. L-carnitine substitution in patients on chronic hemodialysis. Nephron 1989;52(4):295-299 (Pubitemid 19157061)
20. Morris AA, Turnbull DM. Fatty acid oxidation defects in muscle [abstract]. Current Opinion in Neurology 1998;11(5):485-490 (Pubitemid 28542983)
21. Muller E, Kolker S. Reduction of lysine intake while avoiding malnutrition--major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency. Journal of Inherited Metabolic Disease 2004;27(6):903-910 (Pubitemid 39433626)
22. Schmidt-Sommerfeld E, Penn D, Wolf H. Carnitine deficiency in premature infants receiving total parenteral nutrition: effect of L-carnitine supplementation. Journal of Pediatrics 1983;102(6):931-935
23. Schulpis KH, Nounopoulos C, Scarpalezou A, Bouloukos A, Missiou-Tsagarakis S. Serum carnitine level in phenylketonuric children under dietary control in Greece. Acta Paediatrica Scandinavica 1990; 79(10):930-934 (Pubitemid 20333500)
24. Sirtori CR, Calabresi L, Ferrara S, Pazzucconi F, Bondioli A, Baldassarre D, et al.L-carnitine reduces plasma lipoprotein(a) levels in patients with hyper Lp(a). Nutrition, metabolism, and cardiovascular diseases : NMCD 2000;10(5):247-251
25. Vilaseca MA, Briones P, Ferrer I, Campistol J, Riverola A, Castillo P, et al.Controlled diet in phenylketonuria may cause serum carnitine deficiency. Journal of Inherited Metabolic Disease 1993;16(1):101-104 (Pubitemid 23114302)
26. Winter SC. Treatment of carnitine deficiency. Journal of Inherited Metabolic Disease 2003;26(2-3):171-180
27. Wolff JA, Carroll JE, Le Phuc Thuy, Prodanos C, Haas R, Nyhan WL. Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism. Lancet 1986;1(8476):289-291 [MEDLINE: PUBMED 2868163]
28. Yeh YY, Cooke RJ, Zee P. Impairment of lipid emulsion metabolism associated with carnitine insufficiency in premature infants. Journal of Pediatric Gastroenterology & Nutrition 1985;4(5):795-798 (Pubitemid 15048895)
29. Zilleruelo G, Novak M, Hsia SL, Goldberg R, Abitbol C, Monkus E, et al.Effect of dialysate composition on the lipid response to L-carnitine supplementation. Kidney International - Supplement 1989; 27:S259-63.
30. Rodriguez DRE, Mendible A, Gomez N, Williams P, Meneses P, Mathison Y. Drug intervention programin dyslipemic children: Use of L-carnitine. Revista Latina De Cardiologia - Euroamericana 1997; 18(2):25-30. (Pubitemid 27189785)
31. Brown P, Brunnhuber K, Chalkidou K, Chalmers I, Clarke M, Fenton M, Forbes C, Glanville J, Hicks NJ, Moody J, Twaddle S, Timimi H, Young P. How to formulate research recommendations. British Medical Journal 2006;333(7572):804- 806
32. Cairns PA, Stalker DJ. Carnitine supplementation of parenterally fed neonates (Cochrane Review). Cochrane Database of Systematic Reviews 2000, Issue 4. [DOI: 10.1002/14651858.CD000950]
33. Chakrapani A, Cleary MA, Wraith JE. Detection of inborn errors of metabolism in the newborn. Archives of disease in childhood. Fetal and neonatal edition 2001;84(3):F205-10. (Pubitemid 32411263)
34. Egger M, Davey-Smith G, Schneider M, Minder C. Bias in meta-analysis detected by a simple, graphical test. BMJ 1997;315(7109): 629-634 (Pubitemid 27387172)
35. Elbourne D, Altman DG, Higgins JPT, Curtin F, Worthington HV, Vail A. Meta-analysis involving cross-over trials: methodological issues. International Journal of Epidemiology 2002;31(1):140-149 (Pubitemid 34284916)
36. Evangeliou A, Vlassopoulos D. Carnitine metabolism and deficit-- when supplementation is necessary?. Current Pharmaceutical Biotechnology 2003;4(3):211-219 (Pubitemid 36665404)
37. Higgins JPT, Thompson SG, Deeks JJ, Altman DG. Measuring inconsistency in meta-analyses. BMJ 2003;327(7414):557-560
38. Higgins JPT, Altman DG, editors. Chapter 8: Assessing risk of bias in included studies.. Cochrane Handbook for Systematic Reviews of Interventions Version 5.0.0 (updated February 2008). The Cochrane Collaboration, 2008. Available from www.cochrane-handbook.org.
39. Itoh T, Ito T, Ohba S, Sugiyama N, Mizuguchi K, Yamaguchi S, et al.Effect of carnitine administration on glycine metabolism in patients with isovaleric acidemia: significance of acetylcarnitine determination to estimate the proper carnitine dose. The Tohoku Journal of Experimental Medicine 1996 Jun;179(2):101-109 (Pubitemid 26315523)
40. Kolker S, Garbade S, Greenberg CR, et al.Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatric Research 2006;59:840-847. (Pubitemid 44297640)
41. Kolker S, Christensen E, Leonard JV, Greenberg CR, Burlina AB, Burlina AP, Dixon M, Duran M, Goodman SI, Koeller DM, Muller EM, Naughten ER, Neumaier-Probst E, Okun JG, Kyllerman M, Surtees RA, Wilcken B, Hoffmann GF, Burgard P. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). Journal of Inherited Metabolic Disorder 2007;30:5-22. (Pubitemid 46140220)
42. Kruer MC, Steiner RD. The role of evidence-based medicine and clinical trials in rare genetic disorders.. Clinical genetics 2008;74(3): 197-207.
43. Leonard JV, Morris AA. Diagnosis and early management of inborn errors of metabolism presenting around the time of birth. Acta paediatrica 2006;95(1):6-14.
44. Lepage N, Li D, Kavsak PA, Bamforth F, Callahan J, Dooley K, et al.Incomplete pediatric reference intervals for the management of patients with inborn errors of metabolism. Clinical Biochemistry 2006;39(6):595-599 (Pubitemid 43912176)
45. Pollitt RJ, Green A, McCabe CJ, Booth A, Cooper NJ, Leonard JV, et al.Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Technology Assessment 1997;1(7):1-202.
46. Poustie VJ, Wildgoose J, Rutherford P. Dietary interventions for phenylketonuria. Cochrane Database of Systematic Reviews 1999, Issue 3. [DOI: 10.1002/14651858.CD001304]
47. Poustie VJ, Rutherford P. Tyrosine supplementation for phenylketonuria. Cochrane Database of Systematic Reviews 1999, Issue 2. [DOI: 10.1002/14651858.CD001507]
48. The Nordic Cochrane Centre, The Cochrane Collaboration. Review Manager (RevMan). 5.0. Copenhagen: The Nordic Cochrane Centre, The Cochrane Collaboration, 2008.
49. Seymour CA, Thomason MJ, Chalmers RA, Addison GM, Bain MD, Cockburn F, et al.Newborn screening for inborn errors of metabolism: a systematic review. Health Technology Assessment 1997; 1(11):1-95.
50. Steiner RD. Evidence basedmedicine in inborn errors ofmetabolism: is there any and how to find it. American journal of medical genetics 2005;134A(2):192-197
51. Walter JH. L-Carnitine in inborn errors of metabolism: What is the evidence?. Journal of Inherited Metabolic Disease 2003;26(2-3):181-188 (Pubitemid 36889741)
52. Wilcken B, iley V, ammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. The New England Journal of Medicine 2003 Jun;348(23):2304-2312
53. Winter SC, Buist NRM. Inborn errors of Metabolism: Medical and Administrative "Orphans". The American Journal of Managed Care 1998;4(8):1164-1168
54. Yi SHL, Singh RH. Protein substitute for children and adults with phenylketonuria. Cochrane Database of Systematic Reviews 2008, Issue 4.[Art. No.: CD004731. DOI: 0.1002/14651858.CD004731.pub3]