Journal
NEUROPEDIATRICS
Volume 42, Issue 1, Pages 13-17Publisher
GEORG THIEME VERLAG KG
DOI: 10.1055/s-0031-1275342
Keywords
short-chain acyl-CoA dehydrogenase deficiency; epilepsy; clinical relevance
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Funding
- Sigma-Tau B.V.
- Metakids (the Dutch association for research on metabolic disorders)
- Stichting Emma Kinderziekenhuis
- Stichting A.C. Thomsenfonds
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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.
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