Neuropediatrics 2011; 42(1): 13-17
DOI: 10.1055/s-0031-1275342
Original Article

© Georg Thieme Verlag KG Stuttgart · New York

High Prevalence of Short-Chain Acyl-CoA Dehydrogenase Deficiency in the Netherlands, but No Association with Epilepsy of Unknown Origin in Childhood

B. T. van Maldegem1 , S. F. Kloosterman2 , W. J. Janssen2 , P. B. Augustijn3 , J. H. van der Lee4 , L. IJlst2 , H. R. Waterham2 , R. Duran2 , R. J. A. Wanders2 , F. A. Wijburg1
  • 1Department of Paediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  • 2Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  • 3Meer en Bosch and de Cruquishoeve, Stichting Epilepsie Instellingen Nederland, Heemstede, The Netherlands
  • 4Department of Paediatric Clinical Epidemiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Weitere Informationen

Publikationsverlauf

received 16.09.2010

accepted 09.03.2011

Publikationsdatum:
15. April 2011 (online)

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Abstract

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of metabolism, most frequently associated with developmental delay and/or epilepsy. Most SCADD patients carry common SCAD-encoding gene (ACADS) variants or these variants in combination with a rare ACADS mutation, in the Netherlands predominantly the c.1058C>T. Epilepsy in childhood often remains unexplained and patients with epilepsy related to SCADD may remain undiagnosed because studies for SCADD are often not performed. To test this hypothesis and to further estimate the extent of the Dutch SCADD population, we performed a study on blood spot samples in 131 paediatric patients with epilepsy and 909 anonymous newborns and investigated the presence of the 2 common ACADS variants and the rare c.1058C>T mutation. Overall, the 2 common ACADS variants and the rare c.1058C>T mutation were detected in either homozygous or compound heterozygous forms in 9.2% of the epilepsy and 7.5% of the reference group. A birth prevalence of SCADD with a mutation/variant genotype in the Netherlands as high as >1:1 000 was calculated. This is in contrast with the low number of patients diagnosed clinically and supports the hypothesis that SCADD is clinically irrelevant. Furthermore our study does not support an association between SCADD and epilepsy.

References

Correspondence

B. T. van Maldegem

Department of Paediatrics

Academic Medical Center

University of Amsterdam

Meibergdreef 9

1105 AZ Amsterdam

The Netherlands

Telefon: + 31/20/566 8890

Fax: + 31/20/691 7735

eMail: b.van.maldegem@gelre.nl