ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. 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, 61 citations in OpenAlex.
- International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).Journal of inherited metabolic disease · 2026Guideline
- Loss of Echs1 in neural stem and progenitor cells impairs neurogenesis via ER stress activation and lipid metabolic reprogramming.Nature communications · 2026Article
- Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.Metabolomics : Official journal of the Metabolomic Society · 2026Review
- Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.Journal of inherited metabolic disease · 2026Article
- Very long-chain acyl-coenzyme A dehydrogenase deficiency -A rare monogenic steatotic liver disease presenting with acute liver injury in adulthood: A case report and brief review on nutrition management.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2026Article
- Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes.Human mutation · 2026Article
- Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models.EMBO molecular medicine · 2025Review
- 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
- Very long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype-phenotype analysis in a Saudi tertiary center.Frontiers in genetics · 2025Article
- Deficiency of thiosulfate sulfurtransferase mediates the dysfunction of renal tubular mitochondrial fatty acid oxidation in diabetic kidney disease.Cell death and differentiation · 2024Article
- Human inborn errors of long-chain fatty acid oxidation show impaired inflammatory responses to TLR4-ligand LPS.FASEB bioAdvances · 2024Article
- Article
- Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency viaPediatric research · 2022Article
- Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia.Journal of lipid research · 2022Article
- Article
- Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.Journal of inherited metabolic disease · 2022Article
- Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.Journal of inherited metabolic disease · 2022Article
- Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.Molecular genetics and metabolism reports · 2022Article
- The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism.Journal of inherited metabolic disease · 2022Article
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeVery-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid β-oxidation (LC-FAO) and is included in many newborn screening (NBS) programs worldwide. Patients may present with hypoketotic hypoglycemia, cardiomyopathy, and/or myopathy, but clinical severity varies widely and the clinical outcome is unpredictable. We investigated predictive markers that may determine clinical severity.
methodsWe developed a clinical severity score (CSS), which was determined for 13 Dutch patients with VLCADD, all of whom were diagnosed before the introduction of VLCADD in NBS to prevent bias from early diagnosis. In cultured skin fibroblasts from these patients, we measured LC-FAO flux (the rate of oleate oxidation), VLCAD activity, and acylcarnitine profiles following palmitate loading.
resultsThe strongest correlation (r = 0.93; P < 0.0001) was observed between LC-FAO flux and the CSS. VLCAD activity measurement and the C14/C16-to-acylcarnitine ratio correlated much less. A median LC-FAO flux of 6% of control values (range 5.6-6.8%) was associated with cardiomyopathy (P < 0.01), and 32.4% (range 5.6-50.5%) was associated with myopathy (P < 0.05).
conclusionOur results demonstrate a very strong correlation between LC-FAO flux in fibroblasts and the clinical severity of VLCADD. LC-FAO flux measurements may thus predict whether patients are likely to develop symptoms.
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