Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

Journal of Inherited Metabolic Disease

Volumn 33, Issue 5, 2010, Pages 495-500

  Lund, Allan Meldgaard ^a   Skovby, Flemming ^a   Vestergaard, Helle ^a   Christensen, Mette ^a   Christensen, Ernst ^a  

^a Rigshospitalet   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; DOCOSAHEXAENOIC ACID;

BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CARNITINE TRANSPORTER DEFICIENCY; CLINICAL EVALUATION; COPING BEHAVIOR; ECHOGRAPHY; ELECTROCARDIOGRAPHY MONITORING; ESSENTIAL FATTY ACID DEFICIENCY; EXERCISE TOLERANCE; EYE EXAMINATION; FATTY ACID ANALYSIS; FATTY ACID OXIDATION DISORDER; FOLLOW UP; HUMAN; INBORN ERROR OF METABOLISM; KETOGENESIS; LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MEDIUM LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METABOLIC REGULATION; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NEWBORN SCREENING; NUTRITIONAL COUNSELING; PATIENT EDUCATION; PATIENT MONITORING; REVIEW; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

ADOLESCENT; ADULT; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; CONTINUITY OF PATIENT CARE; ENERGY METABOLISM; FATTY ACIDS; GENOTYPE; HEALTH KNOWLEDGE, ATTITUDES, PRACTICE; HUMANS; INFANT; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; OXIDATION-REDUCTION; PATIENT EDUCATION AS TOPIC; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROGNOSIS; TIME FACTORS; YOUNG ADULT;

EID: 77957606873     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9000-2     Document Type: Review

References (20)

1. K Abrahamsson BO Eriksson E Holme U Jodal S Lindstedt I Nordin 1994 Impaired ketogenesis in carnitine depletion caused by short-term administration of pivalic acid prodrug Biochem Med Metabol Biol 52 18 21 1:CAS:528: DyaK2cXksleisbs%3D 10.1006/bmmb.1994.1028 (Pubitemid 24216521)
2. C Angelini A Federico H Reichmann A Lombes P Chinnery D Turnbull 2006 Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders Eur J Neurol 13 923 929 1:STN:280: DC%2BD28rgs1OisA%3D%3D 10.1111/j.1468-1331.2006.01482.x 16930355 (Pubitemid 44284896)
3. GL Arnold HJ Van Hove D Freedenberg A Strauss N Longo B Burton C Garganta C Ficicioglu S Cederbaum C Harding RG Boles D Matern P Chakraborty A Feigenbaum 2009 A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency Mol Genet Metab 96 85 90 1:CAS:528: DC%2BD1MXitVOrurk%3D 10.1016/j.ymgme.2008.09.008 19157942
4. M Christensen M Soeltoft AM Lund E Christensen 2007 Quantification of acylcarnitines and free carnitine by ultra-performance liquid chromatography/tandem mass spectrometry (UPLC-MS/MS) J Inherit Metab Dis 30 46 10.1007/s10545-007-0396-2 (Pubitemid 46488007)
5. TG Derks DJ Reijngoud HR Waterham WJ Gerver MP van den Berg PJ Sauer GP Smit 2006 The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome J Pediatr 148 665 670 1:CAS:528:DC%2BD28XltFGisr8%3D 10.1016/j.jpeds.2005.12.028 16737882 (Pubitemid 43792500)
6. MB Gillingham JQ Purnell J Jordan D Stadler AM Haqq CO Harding 2007 Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency Mol Genet Metab 90 64 69 1:CAS:528:DC%2BD28Xht12qtLrE 10.1016/j.ymgme.2006.08.002 16996288 (Pubitemid 44856824)
7. E Holme U Jodal S Lindstedt I Nordin 1992 Effects of pivalic acid-containing prodrugs on carnitine homeostasis and on response to fasting in children Scand J Clin Lab Invest 52 361 372 1:STN:280:DyaK38zotlGjsw%3D%3D 10.3109/00365519209088371 1514015
8. M Kompare WB Rizzo 2008 Mitochondrial fatty-acid oxidation disorders Semin Pediatr Neurol 15 140 149 10.1016/j.spen.2008.05.008 18708005
9. AM Lund MA Dixon P Vreken JV Leonard AMM Morris 2003 Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency J Inherit Metab Dis 26 410 412 1:CAS:528: DC%2BD3sXmt1emurs%3D 10.1023/A:1025175606891 12971430 (Pubitemid 37045450)
10. AM Lund F Joensen DM Hougaard LK Jensen E Christensen M Christensen B Norgaard-Petersen M Schwartz F Skovby 2007 Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands J Inherit Metab Dis 30 341 349 1:STN:280:DC%2BD2szntVagtA%3D%3D 10.1007/s10545-007-0527-9 17417720
11. P Rinaldo K Raymond A al-Odaib MJ Bennett 1998 Clinical and biochemical features of fatty acid oxidation disorders Curr Opin Pediatr 10 615 621 1:STN:280:DyaK1M%2FmsVCrug%3D%3D 10.1097/00008480-199810060-00014 9848022
12. JM Saudubray D Martin P de Lonlay G Touati TF Poggi D Bonnet P Jouvet M Boutron A Slama SC Vianey JP Bonnefont D Rabier P Kamoun M Brivet 1999 Recognition and management of fatty acid oxidation defects: a series of 107 patients J Inherit Metab Dis 22 488 502 1:CAS:528:DyaK1MXkslOmtL8%3D 10.1023/A:1005556207210 10407781
13. KG Sim J Hammond B Wilcken 2002 Strategies for the diagnosis of mitochondrial fatty acid beta-oxidation disorders Clin Chim Acta 323 37 58 1:CAS:528:DC%2BD38Xls1agtbo%3D 10.1016/S0009-8981(02)00182-1 12135806 (Pubitemid 34804794)
14. U Spiekerkoetter M Lindner R Santer M Grotzke MR Baumgartner H Boehles A Das C Haase JB Hennermann D Karall H de Klerk I Knerr HG Koch B Plecko W Roschinger KO Schwab D Scheible FA Wijburg J Zschocke E Mayatepek U Wendel 2009a Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop J Inherit Metab Dis 32 488 497 1:STN:280:DC%2BD1MrkslSluw%3D%3D 10.1007/s10545-009-1125-9
15. U Spiekerkoetter M Lindner R Santer M Grotzke MR Baumgartner H Boehles A Das C Haase JB Hennermann D Karall H de Klerk I Knerr HG Koch B Plecko W Roschinger KO Schwab D Scheible FA Wijburg J Zschocke E Mayatepek U Wendel 2009b Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop J Inherit Metab Dis 32 498 505 1:STN:280:DC%2BD1MrkslWnug%3D%3D 10.1007/s10545-009-1126-8
16. CA Stanley 2004 Carnitine deficiency disorders in children Ann N Y Acad Sci 1033 42 51 1:CAS:528:DC%2BD2MXjvFOhuw%3D%3D 10.1196/annals.1320.004 15591002 (Pubitemid 39656737)
17. JL Van Hove SG Kahler MD Feezor JP Ramakrishna P Hart WR Treem JJ Shen D Matern DS Millington 2000 Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency J Inherit Metab Dis 23 571 582 10.1023/A:1005673828469 11032332
18. L Waddell V Wiley K Carpenter B Bennetts L Angel BS Andresen B Wilcken 2006 Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations Mol Genet Metab 87 32 39 1:CAS:528:DC%2BD28XkvV2h 10.1016/j.ymgme.2005.09.020 16291504 (Pubitemid 43003764)
19. JH Walter 2009 Tolerance to fast: rational and practical evaluation in children with hypoketonaemia J Inherit Metab Dis 32 214 217 1:STN:280: DC%2BD1M3ltFWqug%3D%3D 10.1007/s10545-009-1087-y 19255872
20. RJ Wanders P Vreken ME den Boer FA Wijburg AH van Gennip L IJlst 1999 Disorders of mitochondrial fatty acyl-CoA beta-oxidation J Inherit Metab Dis 22 442 487 1:CAS:528:DyaK1MXkslOmtL4%3D 10.1023/A:1005504223140 10407780 (Pubitemid 29281036)