Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency

Journal of Inherited Metabolic Disease

Volumn 31, Issue 1, 2008, Pages 88-96

  Derks, T G J ^a,c   Boer, T S ^a   Assen, A ^a   Bos, T ^a   Ruiter, J ^b   Waterham, H R ^b   Niezen Koning, K E ^a,c   Wanders, R J A ^b   Rondeel, J M M ^d   Loeber, J G ^e   Te Kate, L P ^f   Smit, G P A ^a,c   Reijngoud, D J ^a,c  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

^d ISALA HOSPITAL   (Netherlands)

^e NATIONAL INSTITUTE FOR PUBLIC HEALTH AND THE ENVIRONMENT   (Netherlands)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE DERIVATIVE; COENZYME A; HEXANOYL COENZYME A; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; OCTANOYLCARNITINE; PHENYLPROPIONYL COENZYME A; UNCLASSIFIED DRUG;

AMINO ACID BLOOD LEVEL; ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; ENZYME SUBSTRATE; FALSE POSITIVE RESULT; FOLLOW UP; HUMAN; LABORATORY TEST; LEUKOCYTE; LYMPHOCYTE; MAJOR CLINICAL STUDY; MASS SCREENING; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; NETHERLANDS; NEWBORN; NEWBORN DISEASE; NEWBORN SCREENING; OUTCOME ASSESSMENT; PREVALENCE; PROSPECTIVE STUDY; TANDEM MASS SPECTROMETRY;

ACYL COENZYME A; ACYL-COA DEHYDROGENASE; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; FALSE POSITIVE REACTIONS; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; INFANT, NEWBORN; LEUKOCYTES; LIPID METABOLISM, INBORN ERRORS; LYMPHOCYTES; MOLECULAR DIAGNOSTIC TECHNIQUES; NEONATAL SCREENING; NETHERLANDS; PILOT PROJECTS; PREVALENCE;

EID: 40849114653     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0492-3     Document Type: Article

References (32)

1. Andresen BS, Dobrowolski SF, O'Reilly L, et al (2001) Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet 68: 1408-1418.
2. Blois B, Riddell C, Dooley K, Dyack S (2005) Newborns with C 8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation. J Inherit Metab Dis 28: 551-556.
3. Chace DH, Hillman SL, Van Hove JLK, Naylor EW (1997) Rapid diagnosis of MCAD deficiency: Quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem 43: 2106-2113.
4. Chace DH, DiPerna JC, Mitchell BL, Sqroi B, Hofman LF, Naylor EW (2001) 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 47: 1166-1182.
5. Costa CG, Struys EA, Bootsma A, et al (1997) Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res 38: 173-182.
6. Derks TG, Duran M, Waterham HR, et al (2005) The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study. Eur J Hum Genet 13: 947-952.
7. Derks TG, Reijngoud DJ, Waterham HR et al (2006) The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr 148: 665-670.
8. De Vries HG, Niezen-Koning K, Kliphuis JW, Smit GP, Scheffer H, ten Kate LP (1996) Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in the Netherlands. Hum Genet 98: 1-2.
9. 10 ratio at day 6 differentiates affected cases from carriers. J Inherit Metab Dis 28 (Supplemenr 1): 10.
10. Hira-Sing RA, Rodrigues-Pereira R (2002) Het Nederlands Signaleringscentrum Kindergeneeskunde; een kwaliteitsinstrument voor preventie en onderzoek. [The Dutch Pediatric Surveillance System; a quality focused instrument for prevention and research]. Ned Tijdschr Geneeskd 146: 2409-2414.
11. Iafolla AK, Thompson Jr RJ, Roe CR (1994) Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children. J Pediatr 124: 409-415.
12. Lehotay DC, LePage J, Thompson JR, Rockman-Greenberg C (2004) Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: A relationship between genotype and biochemical phenotype? J Inherit Metab Dis 27: 81-88.
13. Maier EM, Liebl B, Roschinger W et al (2005) Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat 25: 443-452.
14. Maisels MJ, Gifford K, Antle CE, Leib GR (1988) Jaundice in the healthy newborn infant: A new approach to an old problem. Pediatrics 81: 505-511.
15. Niezen-Koning KE, Chapman TE, Mulder IE, Smit GP, Reijngoud DJ, Berger R (1991) Determination of medium chain acyl-coenzyme A dehydrogenase activity in cultured skin fibroblasts using mass spectrometry. Clin Chim Acta 199: 173-184.
16. Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S (2004) Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: A systematic review. Health Technol Assess 8: 1-121.
17. Pollitt RJ, Lonard JV (1998) Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. Arch Dis Child 79: 116-119.
18. Pourfarzam M, Morris A, Appleton M, Craft A, Bartlett K (2001) Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. Lancet 358: 1063-1064.
19. Rhead WJ (2006) Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective. J Inherit Metab Dis 29: 370-377.
20. Roe CR, Jiahuan Ding (2001) Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2297-2326.
21. Roe CR, Millington DS, Maltby DA, Bohan TP, Kahler SG, Chalmers RA (1985) Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency. Pediatr Res 19: 459-466.
22. Sander S, Janzen N, Janetzky B, et al (2001) Neonatal screening for medium chain acyl-CoA deficiency: High incidence in Lower Saxony (northern Germany). Eur J Pediatr 160: 318-319.
23. Tanaka K, Yokota I, Coates PM, et al (1992) Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mutat 1: 271-279.
24. Van Hove JL, Zhang W, Kahler SG, et al (1993) Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Diagnosis by acylcarnitine analysis in blood. Am J Hum Genet 52: 958-966.
25. Waddell L, Wiley V, Carpenter K, et al (2006) Medium-chain acyl-CoA dehydrogenase deficiency: Genotype-biochemical phenotype correlations. Mol Genet Metab 87: 32-39.
26. Wanders RJ, Vreken P, den Boer ME, Wijburg FA, van Gennip AH, Ijlst L (1999) Disorders of mitochondrial fatty acyl-CoA beta-oxidation. J Inherit Metab Dis 22: 442-487.
27. Wilcken B, Hammond J, Silink M (1994) Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. Arch Dis Child 70: 410-412.
28. Wilson CJ, Champion MP, Collins JE, Clayton PT, Leonard JV (1999) Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child 80: 459-462.
29. Yao KW, Schulz H (1993) Specific assay of medium-chain acyl-CoA dehydrogenase based on the spectrophotometric measurement of product formation. Anal Biochem 214: 528-534.
30. Ziadeh R, Hoffman EP, Finegold DN, et al (1995) Medium chain Acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res 37: 675-678.
31. Zschocke J, Schulze A, Lindner M, et al (2001) Molecular and functional characterisation of mild MCAD deficiency. Hum Genet 108: 404-408.
32. Zytkovicz TH, Fitzgerald EF, Marsden D, et al (2001) Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England Newborn Screening Program. Clin Chem 47: 1945-1955.