Short-chain acyl-CoA dehydrogenase deficiency (SCADD): Relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated;De vetzuuroxidatiestoornis 'short chain'-acyl-CoA- dehydrogenasedeficiëntie: Relatief hoge prevalentie en sterk wisselend fenotype; neonatale screening niet geïndiceerd

Nederlands Tijdschrift voor Geneeskunde

Volumn 152, Issue 30, 2008, Pages 1678-1685

  Van Maldegem, B T ^a   Duran, M ^a   Wanders, R J A ^a   Niezen Koning, K E ^b   Hogeveen, M ^c   Ijlst, L ^a   Waterham, H R ^a   Wijburg, F A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BUTYRYL COENZYME A DEHYDROGENASE; CARNITINE;

ARTICLE; BEHAVIOR DISORDER; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; ENZYME DEFICIENCY; EPILEPSY; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOGLYCEMIA; MALE; NETHERLANDS; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PREVALENCE; RETROSPECTIVE STUDY; SYMPTOM;

EID: 49149085314     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Amendt BA, Greene C, Sweetman L, Cloherty J, Shih V, Moon A, et al. Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. J Clin Invest. 1987;79:1303-9.
2. Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin jr DK, et al. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res. 2003;54:219-23.
3. Kurian MA, Hartley L, Zolkipli Z, Little MA, Costigan D, Naughten ER, et al. Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. Neuropediatrics. 2004;35: 312-6.
4. Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE. Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr. 1995;126: 910-5.
5. Birkebaek NH, Simonsen H, Gregersen NS. Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G>A gene variation. Acta Paediatr. 2002;91:480-2.
6. Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter VS, et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res. 2001; 49:18-23.
7. Gregersen NS, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, et al. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case for 625G→A, together conferring susceptibility to ethylmalonic aciduria. Hum Mol Genet. 1998;7: 619-27.
8. Dawson DB, Waber L, Hale DE, Bennett MJ. Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr. 1995;126:69-71.
9. Sewell AC, Herwig J, Böhles H, Rinaldo P, Bhala A, Hale DE. A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. Eur J Pediatr. 1993;152:922-4.
10. Bok LA, Vreken P, Wijburg FA, Wanders RJ, Gregersen NS, Corydon MJ, et al. Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics. 2003;112:1152-5.
11. Matern D, Hart P, Murtha AP, Vockley J, Gregersen NS, Millington DS, et al. Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr. 2001;138:585-8.
12. Niezen-Koning KE, Wanders RJ, Nagel GT, Sewell AC, Heymans HS. Measurement of short-chain acyl-CoA dehydrogenase (SCAD) in cul-tured skin fibroblasts with hexanoyl-CoA as a competitive inhibitor to eliminate the contribution of medium-chain acyl-CoA dehydrogenase. Clin Chim Acta. 1994;229:99-106.
13. Seidel J, Streck S, Bellstedt K, Vianey-Saban C, Pedersen CB, Vockley J, et al. Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. J Inherit Metab Dis. 2003 526:37-42.
14. Corydon MJ, Andresen BS, Bross P, Kjeldsen M, Andreasen PH, Eiberg H, et al. Structural organization of the human short-chain acyl-CoA dehydrogenase gene. Mamm Genome. 1997;8:922-6.
15. Naito E, Indo Y, Tanaka K. Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency. J Clin Invest. 1990;85:1575-82.
16. Maldegem BT van, Waterham HR, Duran M, Vlies M van der, Woerden CS van, Bobu LL, et al. The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots. J Inherit Metab Dis. 2005;28:557-62.
17. Kmoch S, Zeman J, Hrebicek M, Ryba L, Kristensen MJ, Gregersen NS. Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase. J Inherit Metab Dis. 1995;18:227-9.
18. Terrell BL. U.S. national newborn screening status report. Austin: National Newborn Screening and Genetics Resource Center; 2006.
19. 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.
20. National Health Public Partnership. An overview of public health surveillance of genetic disorders and mapping of current genetic screening services in Australia. Melbourne: National Health Public Partnership; 2002.
21. Frankenburg WK. Selection of diseases and tests in pediatric screening. Pediatrics. 1974;54:612-6.
22. Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, 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.
23. Leipnitz G, Schuck PF, Ribeiro CA, Dalcin KB, Assis DR, Barschak AG, et al. Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro. Neurochem Res. 2003;28:771-7.
24. Rhead WJ, Allain D, van Calcar S, Hanson K, Wolff J, Larson CA, et al. Short-chain acyl-coenzyme A dehydrogenase (SCAD) and 3-methylcrotonyl-coA carboxylase (MCC) deficiencies: tandem mass spectrometry newborn screening detects many clinically benign cases. Ref Type: Generic. J Inherit Metab Dis. 2002;25(Suppl 1):4.
25. Pollitt RJ. International perspectives on newborn screening. J Inherit Metab Dis. 2006;29:390-6.
26. American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system - executive summary. Pediatrics. 2006:117(5 Pt 2):S296-307.