{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T20:26:19Z","timestamp":1792009579918,"version":"4.4.0"},"reference-count":19,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2024,3,30]],"date-time":"2024-03-30T00:00:00Z","timestamp":1711756800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Michal Inbar-Feigenberg\u2019s research fund"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare genetic condition affecting the mitochondrial beta-oxidation of long-chain fatty acids. This study reports on the clinical outcomes of patients diagnosed by newborn screening with VLCAD deficiency comparing metabolic parameters, enzyme activities, molecular results, and clinical management. It is a single-center retrospective chart review of VLCAD deficiency patients who met the inclusion criteria between January 2002 and February 2020. The study included 12 patients, 7 of whom had an enzyme activity of more than 10%, and 5 patients had an enzyme activity of less than 10%. The Pearson correlation between enzyme activity and the C14:1 level at newborn screening showed a p-value of 0.0003, and the correlation between enzyme activity and the C14:1 level at diagnosis had a p-value of 0.0295. There was no clear correlation between the number of documented admissions and the enzyme activity level. Patients who had a high C14:1 value at diagnosis were started on a diet with a lower percentage of energy from long-chain triglycerides. The C14:1 result at diagnosis is the value that has been guiding our initial clinical management in asymptomatic diagnosed newborns. However, the newborn screening C14:1 value is the most sensitive predictor of low enzyme activity and may help guide dietary management.<\/jats:p>","DOI":"10.3390\/ijns10020029","type":"journal-article","created":{"date-parts":[[2024,3,31]],"date-time":"2024-03-31T13:39:37Z","timestamp":1711892377000},"page":"29","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review"],"prefix":"10.3390","volume":"10","author":[{"given":"Maria","family":"Al Bandari","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Nagy","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Clinical Dietetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivian","family":"Cruz","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Division of Clinical and Metabolic Genetics, Lawrence S, Bloomberg, Faculty of Nursing, University of Toronto, Toronto, ON M5T 1P8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacy","family":"Hewson","sequence":"additional","affiliation":[{"name":"Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alomgir","family":"Hossain","sequence":"additional","affiliation":[{"name":"Clinical Research Services (CRS), The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Inbar-Feigenberg","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Department of Pediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.ymgme.2008.09.008","article-title":"A Delphi Clinical Practice Protocol for the Management of Very Long Chain Acyl-Coa Dehydrogenase Deficiency","volume":"96","author":"Arnold","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"ref_2","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. (2023). Genereviews(\u00ae), University of Washington."},{"key":"ref_3","first-page":"73","article-title":"Management and Diagnosis of Mitochondrial Fatty Acid Oxidation Disorders: Focus on Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency","volume":"64","author":"Kenji","year":"2018","journal-title":"J. Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.ymgme.2019.04.001","article-title":"Clinical and Biochemical Outcome of Patients with Very Long-Chain Acyl-Coa Dehydrogenase Deficiency","volume":"127","author":"Rovelli","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.ymgme.2013.02.002","article-title":"Molecular and Cellular Pathology of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency","volume":"109","author":"Manuel","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.ymgme.2020.10.001","article-title":"Nutrition Management Guideline for Very-Long Chain Acyl-Coa Dehydrogenase Deficiency (Vlcad): An Evidence- and Consensus-Based Approach","volume":"131","author":"Sowa","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.ymgme.2016.05.007","article-title":"Outcomes and Genotype-Phenotype Correlations in 52 Individuals with Vlcad Deficiency Diagnosed by Nbs and Enrolled in the Ibem-Is Database","volume":"118","author":"Pena","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.ymgme.2016.05.012","article-title":"Vlcad Deficiency: Follow-up and Outcome of Patients Diagnosed through Newborn Screening in Victoria","volume":"118","author":"Evans","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.ymgme.2015.08.011","article-title":"Recurrent Acadvl Molecular Findings in Individuals with a Positive Newborn Screen for Very Long Chain Acyl-Coa Dehydrogenase (Vlcad) Deficiency in the United States","volume":"116","author":"Miller","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1086\/302261","article-title":"Clear Correlation of Genotype with Disease Phenotype in Very-Long-Chain Acyl-Coa Dehydrogenase Deficiency","volume":"64","author":"Andresen","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/j.jpeds.2009.10.031","article-title":"Very Long-Chain Acyl-Coa Dehydrogenase Deficiency in a Patient with Normal Newborn Screening by Tandem Mass Spectrometry","volume":"156","author":"Ficicioglu","year":"2010","journal-title":"J. Pediatr."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1007\/s10545-018-0245-5","article-title":"The Diagnostic Challenge in Very-Long Chain Acyl-Coa Dehydrogenase Deficiency (Vlcadd)","volume":"41","author":"Hesse","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"4250","DOI":"10.1093\/nar\/gkm402","article-title":"Aberrant 5\u2019 Splice Sites in Human Disease Genes: Mutation Pattern, Nucleotide Structure and Comparison of Computational Tools That Predict Their Utilization","volume":"35","author":"Buratti","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1097\/GIM.0b013e31816b5cae","article-title":"Acmg Recommendations for Standards for Interpretation and Reporting of Sequence Variations: Revisions 2007","volume":"10","author":"Richards","year":"2008","journal-title":"Genet. Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.nmd.2009.02.007","article-title":"Diagnostic Assessment and Long-Term Follow-up of 13 Patients with Very Long-Chain Acyl-Coenzyme a Dehydrogenase (Vlcad) Deficiency","volume":"19","author":"Rigal","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/8904_2017_40","article-title":"Four Years\u2019 Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers","volume":"39","author":"Merinero","year":"2018","journal-title":"JIMD Rep."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1007\/s10545-014-9727-2","article-title":"Expanded Newborn Screening in New South Wales: Missed Cases","volume":"37","author":"Estrella","year":"2014","journal-title":"J. Inherit. Metab. Dis. 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