Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry

Journal of Pediatrics

Volumn 149, Issue 1, 2006, Pages 128-130

  Schymik, Ina ^a   Liebig, Michaela ^a   Mueller, Martina ^a   Wendel, Udo ^a   Mayatepek, Ertan ^a   Strauss, Arnold W ^a   Wanders, Ronald J A ^a   Spiekerkoetter, Ute ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE; ENZYME;

ARTICLE; CASE REPORT; DIAGNOSTIC ERROR; ENZYME ANALYSIS; ENZYME ASSAY; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; FEMALE; HETEROZYGOSITY; HUMAN; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; TANDEM MASS SPECTROMETRY; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; CARNITINE; CHILD, PRESCHOOL; FEMALE; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; MUTATION, MISSENSE; NEONATAL SCREENING; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 33746114888     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2006.02.037     Document Type: Article

References (8)

1. US National Screening Status Report. MS/MS (2005), National Newborn Screening and Genetics Resource Center, Washington, DC. http://genes-r-us.uthscsa.edu/resources/newborn/msmstests.htm Available at http://genes-r-us.uthscsa.edu/resources/newborn/msmstests.htm. Accessed August 26, 2005.
2. Spiekerkoetter U., Sun B., Zytkovicz T., Wanders R., Strauss A.W., and Wendel U. MS/MS-based newborn and family screening detects asymptomatic patients with very long-chain acyl-CoA dehydrogenase deficiency. J Pediatr 143 (2003) 335-342
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4. Strauss A.W., Powell C.K., Hale D.E., Anderson M.M., Ahuja A., Brackett J.C., et al. Molecular basis of human mitochondrial very long chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc Natl Acad Sci USA 92 (1995) 10496-10500
5. Wanders R.J.A., Vreken P., Den Boer M.E.J., Wijburg F.A., van Gennip A.H., and Ijlst L. Disorders of mitochondrial fatty acyl-CoA b-oxidation. J Inherit Metab Dis 22 (1999) 442-487
6. Andresen B.S., Olpin S., Poorthuis B.J., Scholte H.R., Vianey-Saban C., Wanders R., et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64 (1999) 479-494
7. Browning M.F., Larson C., Strauss A., and Marsden D.L. Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects. J Inherit Metab Dis 28 (2005) 545-550
8. Spiekerkoetter U., Tokunaga C., Wendel U., Mayatepek E., Duran M., Wijburg F.A., et al. Changes in blood carnitine and acylcarnitine profiles of very-long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress. Eur J Clin Invest 34 (2004) 191-196