Expanded newborn screening: Lessons learned from MCAD deficiency

Paediatrics and Child Health

Volumn 9, Issue 4, 2004, Pages 241-243

  Dyack, Sarah ^a,b  

^a DALHOUSIE UNIVERSITY   (Canada)

^b IWK HEALTH CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; GLUCOSE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ATTENTION DEFICIT DISORDER; CANADA; CHILD HEALTH CARE; CLINICAL FEATURE; DEVICE; DIAGNOSTIC TEST; ELECTROSPRAY MASS SPECTROMETRY; ENZYME DEFICIENCY; ENZYME MECHANISM; FATTY ACID OXIDATION; GENE MUTATION; HUMAN; INBORN ERROR OF METABOLISM; MASS SPECTROMETRY; MORBIDITY; NEWBORN SCREENING; PHENYLKETONURIA; SCREENING TEST; SHORT SURVEY; TANDEM MASS SPECTROMETRY;

EID: 2442423056     PISSN: 12057088     EISSN: None     Source Type: Journal    
DOI: 10.1093/pch/9.4.241     Document Type: Short Survey

References (20)

1. Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill Companies Inc, 2001.
2. Dussault JH. The anecdotal history of screening for congenital hypothyroidism. J Clin Endocrinol Metab 1999;84:4332-4.
3. Carpenter K, Wiley V, Sim KG, Heath D, Wilcken B. Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275000 babies. Arch Dis Child Fetal Neonatal Ed 2001;85:F105-9.
4. Chase DH, Hillman SL, VanHove JLK, Naylor EW. Rapid diagnosis of MCAD deficiency: Quantitative analysis in newborn blood spots by tandem mass spectrometry. Clin Chem 1997;43:2106-13.
5. Clayton PT, Doing M, Ghafari S, et al. Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. Arch Dis Child 1998;79:109-15.
6. Rashed MS, Bucknall MP, Little D, et al. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem 1997;43:1129-41.
7. Zytkovicz TH, Fitzgerald EF, Marsden D, et al. 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 2001;47:1945-55.
8. Van Hove JL, Zhang W, Khaler SG, et al. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Diagnosis by acylcamitine analysis in blood. Am J Hum Genet 1993;52:958-66.
9. Insinga RP, Laessig RH, Hoffmann GL. Newborn screening with tandem mass spectrometry: Examining its cost-effectiveness in the Wisconsin newborn screening panel. J Pediatr 2002;141:524-31.
10. Schoen EJ, Baker JC, Colby CJ, To TT. Cost-benefit analysis of universal tandem mass spectrometry for newborn screening. Pediatrics 2002;110:781-6.
11. Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med. 2003;348:2304-12.
12. Holtzmann NA. Newborn screening for inherited metabolic disorders: Desirable characteristics, experience and issues. In: Kaback M, ed. Genetic Issues in Pediatrics, Perinatology and Obstetrical Practice. Chicago: Year Book Medical Publishers, 1980.
13. The National Screening Committee of the UK Handbook of Population Screening Programs 1998. National Screening Committee. The National Screening Committee Handbook of Population Screening Programmes, First Edition (draft). Health Departments of the United Kingdom, April 1998 〈 www.nsc.nhs.uk/pdfs/nsc_handbookfirstdraft.pdf〉 (Version current at March 15, 2004).
14. Yokota I, Indo Y, Coates PM, Tanaka K. Molecular basis of medium chain acyl-coenzyme dehydrogenase deficiency. J Clin Invest 1990;86:1000-3.
15. Roe CR, Ding J. Mitochondrial fatty acid oxidation disorders. In: Sly WS, ed. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2000:2311-5.
16. Andressen BS, Dobrowolski SF, O'Reilly L, et al. 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, prevelant mutation that results in mild MCAD deficiency. Am J Hum Genet 2001;68:1408-18.
17. Iafolla AK, Thompson RJ, Roe CR. Medium-chain acyl-CoA dehydrogenase deficiency: Clinical course in 120 affected children. J Pediatr 1994;124:409-15.
18. Pollitt RJ, Leonard JV. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. Arch Dis Child 1998;79:116-9.
19. Wilson CJ, Champion MP, Collins JE, Clayton PT, Leonard JV. Outcome of medium-chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child 1999;80:459-62.
20. Ung C. Newborn screening for medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency in Nova Scotia. (1992) Bsc(Med), Dalhousie University.