How to use acylcarnitine profiles to help diagnose inborn errors of metabolism

Archives of Disease in Childhood: Education and Practice Edition

Volumn 95, Issue 5, 2010, Pages 151-156

  Santra, Saikat ^a   Hendriksz, C ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE; CARNITINE DERIVATIVE; PROPIONYLCARNITINE;

2 METHYL 3 BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; 3 METHYL CROTONYL COENZYME A CARBOXYLASE DEFICIENCY; AMINO ACID ANALYSIS; AMINO ACID METABOLISM; ANALYTICAL PARAMETERS; ARTICLE; BETA KETOTHIOLASE DEFICIENCY; BIOTINIDASE DEFICIENCY; BLOOD ANALYSIS; CARNITINE DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE 1 DEFICIENCY; CHEMICAL STRUCTURE; DERIVATIZATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DISORDERS OF CARBOHYDRATE METABOLISM; HUMAN; HYDROXYMETHYLGLUTARYL COENZYME A LYASE DEFICIENCY; INBORN ERROR OF METABOLISM; INTRACELLULAR TRANSPORT; ISOBUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; ISOVALERIC ACIDEMIA; LONG CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METHYLMALONIC ACIDEMIA; METHYLMALONIC ACIDURIA; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; SHORT CHAIN ACYL COENZYME A DEFICIENCY; TANDEM MASS SPECTROMETRY; URINALYSIS; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

CARNITINE; CHEMISTRY, CLINICAL; CHILD; HUMANS; METABOLISM, INBORN ERRORS; PEDIATRICS;

EID: 77957325732     PISSN: 17430585     EISSN: 17430593     Source Type: Journal    
DOI: 10.1136/adc.2009.174342     Document Type: Article

References (31)

1. Millington DS, Kodo N, Norwood DL, et al. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 1990;13:321-4.
2. Millington DS, Terada N, Chace DH, et al. The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. Prog Clin Biol Res 1992;375:339-54.
3. Matsumoto M, Matsumoto I, Shinka T, et al. Organic acid and acylcarnitine profiles of glutaric aciduria type I. Acta Paediatr Jpn 1990;32:76-82.
4. Fernandes J, Saudubray JM, van den Berghe G, et al. Inborn metabolic diseases. Heidelberg: Springer, 2006.
5. Matern D, Strauss AW, Hillman SL, et al. Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis. Pediatr Res 1999;46:45-9.
6. Pierre G, Macdonald A, Gray G, et al. Prospective treatment in carnitine-acylcarnitine translocase deficiency. J Inherit Metab Dis 2007;30:815.
7. Moore SJ, Haites NE, Broom I, et al. Acylcarnitine analysis in the investigation of myopathy. J Inherit Metab Dis 1998;21:427-8.
8. Rashed MS, Ozand PT, Bennett MJ, et al. Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile. Clin Chem 1995;41:1109-14.
9. Nuoffer JM, de Lonlay P, Costa C, et al. Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency. Eur J Pediatr 2000;159:82-5.
10. Kölker S, Christensen E, Leonard JV, et al. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis 2007;30:5-22.
11. Rizzo C, Boenzi S, Wanders RJ, et al. Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry. Pediatr Res 2003;53:1013-18.
12. Morris AA, Thekekara A, Wilks Z, et al. Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease. Arch Dis Child 1996;75:115-19.
13. Chace DH, DiPerna JC, Mitchell BL, et al. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem 2001;47:1166-82.
14. Wilcox RL, Nelson CC, Stenzel P, et al. Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy. J Pediatr 2002;141:833-6.
15. Bonham JR, Downing M. Metabolic deficiencies and SIDS. J Clin Pathol 1992;45:33-8.
16. Olpin SE. The metabolic investigation of sudden infant death. Ann Clin Biochem 2004;41:282-93.
17. Mannix R, Tan ML, Wright R, et al. Acute pediatric rhabdomyolysis: causes and rates of renal failure. Pediatrics 2006;118:2119-25.
18. Yokoi K, Ito T, Maeda Y, et al. Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency. Tohoku J Exp Med 2007;213:351-9.
19. Meyburg J, Schulze A, Kohlmueller D, et al. Postnatal changes in neonatal acylcarnitine profile. Pediatr Res 2001;49:125-9.
20. Meyburg J, Schulze A, Kohlmueller D, et al. Acylcarnitine profiles of preterm infants over the first four weeks of life. Pediatr Res 2002;52:720-3.
21. Frazier DM, Millington DS, McCandless SE, et al. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J Inherit Metab Dis 2006;29:76-85.
22. Goddard P. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) in the UK. J Fam Health Care 2004;14:90-2.
23. Browning MF, Larson C, Strauss A, et al. Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects. J Inherit Metab Dis 2005;28:545-50.
24. Reuter SE, Evans AM, Faull RJ, et al. Impact of haemodialysis on individual endogenous plasma acylcarnitine concentrations in end-stage renal disease. Ann Clin Biochem 2005;42:387-93.
25. Ferrer I, Ruiz-Sala P, Vicente Y, et al. Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias. J Chromatogr B Analyt Technol Biomed Life Sci 2007;860:121-6.
26. Kuster T, Torresani T, Kleinert P, et al. Filter paper cards contaminated with EMLA cream produce artefacts on acylcarnitine analysis. J Inherit Metab Dis 2004;27:707-9.
27. Nagan N, Kruckeberg KE, Tauscher AL, et al. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. Mol Genet Metab 2003;78:239-46.
28. Mueller P, Schulze A, Schindler I, et al. Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults. Clin Chim Acta 2003;327:47-57.
29. Kobayashi H, Hasegawa Y, Endo M, et al. ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders. J Chromatogr B Analyt Technol Biomed Life Sci 2007;855:80-7.
30. Walter JH, Patterson A, Till J, et al. Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study. J Inherit Metab Dis 2009;32:95-101.
31. Roe DS, Yang BZ, Vianey-Saban C , et al. Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. Mol Genet Metab 2006;87:40-7.