ArticleJournal of inherited metabolic disease2012
VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.
Article in Journal of inherited metabolic disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it.
- International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).Journal of inherited metabolic disease · 2026Guideline
- Hormonal Responses to a Short Daytime Fast in Children With Beta-Oxidation Disorders.JIMD reports · 2026Article
- Expanding the Mutational Spectrum ofGenes · 2026Article
- Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.Journal of inherited metabolic disease · 2026Article
- Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Patient.Molecular genetics & genomic medicine · 2025Article
- Assessment of Fasting Metabolism With Microdialysis Indicates Earlier Lipolysis in Children With VLCADD Than MCADD.Acta paediatrica (Oslo, Norway : 1992) · 2025Article
- Article
- The Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.Biomolecules · 2025Review
- Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.Journal of inherited metabolic disease · 2025Article
- Four novel variants identified in theFrontiers in genetics · 2024Article
- Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.Molecular genetics and metabolism · 2023Article
- Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients.BMC biology · 2023Article
- Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency viaPediatric research · 2022Article
- Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.Journal of inherited metabolic disease · 2022Article
- Target Diseases for Neonatal Screening in Germany.Deutsches Arzteblatt international · 2022Review
- Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.JIMD reports · 2022Article
- Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?Journal of assisted reproduction and genetics · 2022Observational
- Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.JIMD reports · 2021Article
- Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Review
- Ethical and Psychosocial Implications of Genomic Newborn Screening.International journal of neonatal screening · 2021Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tandem mass spectrometry-based newborn screening correctly identifies individuals with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). However, a great number of healthy individuals present with identical acylcarnitine profiles during catabolism in the first three days of life. We routinely perform an enzyme activity assay as confirmation analysis in newborns identified by screening. Whereas VLCAD residual activities of less than 10% are clearly diagnostic and indicate patients at risk of clinical disease, the clinical relevance of higher residual activities is unclear. In this study we assess the molecular basis in 34 individuals with residual activities of 10-50%. We identify two pathogenic mutations in patients that result in residual activities as high as 22%, while individuals with residual activities of 25-50% either present with a heterozygous or no mutation in the VLCAD gene. In addition, confirmed heterozygous parents present with residual activities as low as 32%.In conclusion, we identify individuals with 2 pathogenic mutations and those with only one heterozygous mutation in the residual activity range of 20-30%. Whereas heterozygosity is generally regarded as clinically irrelevant, identification of 2 VLCAD mutations leads to precautions in the management of the children. Based on our data we anticipate that individuals with a residual enzyme activity >20% present with a biochemical phenotype but likely remain asymptomatic throughout life. Studies in greater patient numbers are needed to correlate residual activities >10% with the genotype and the outcome.
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