Research & Literature

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

Diekman EF, Ferdinandusse S, van der Pol L, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(12)):989-94 doi:10.1038/gim.2015.22.

A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.

Hisahara S, Matsushita T, Furuyama H, et al.

The Tohoku journal of experimental medicine 2015; (235(4)):305-10 doi:10.1620/tjem.235.305.

[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].

Jinjun C, Wenjuan Q, Ruinan Z, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2015; (53(4)):262-7.

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

Miller MJ, Burrage LC, Gibson JB, et al.

Molecular genetics and metabolism 2015; (116(3)):139-45.

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.

Diekman E, de Sain-van der Velden M, Waterham H, et al.

JIMD reports 2016; (27()):101-6 doi:10.1007/8904_2015_476.

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.

Burrage LC, Miller MJ, Wong LJ, et al.

The Journal of pediatrics 2016; (169()):208-13.e2.

Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.

Ko JM, Seo J, Choi M, et al.

Annals of clinical and laboratory science 2016; (46(1)):97-101.

Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.

Scott Schwoerer J, Cooper G, van Calcar S

Molecular genetics and metabolism reports 2015; (3()):39-41 doi:10.1016/j.ymgmr.2015.03.003.

Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders.

Brown A, Crowe L, Boneh A, Anderson V

JIMD reports 2017; (31()):29-36 doi:10.1007/8904_2016_544.

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

Pena LD, van Calcar SC, Hansen J, et al.

Molecular genetics and metabolism 2016; (118(4)):272-81.

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients.

Welsink-Karssies MM, Polderman JAW, Nieveen van Dijkum EJ, et al.

JIMD reports 2017; (34()):49-54 doi:10.1007/8904_2016_6.

Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models.

Tucci S

Journal of inherited metabolic disease 2017; (40(3)):317-323 doi:10.1007/s10545-017-0016-8.

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Merinero B, Alcaide P, Martín-Hernández E, et al.

JIMD reports 2018; (39()):63-74 doi:10.1007/8904_2017_40.

Fasting induces prominent proteomic changes in liver in very long chain Acyl-CoA dehydrogenase deficient mice.

Wang W, Palmfeldt J, Mohsen AW, et al.

Biochemistry and biophysics reports 2016; (8()):333-339 doi:10.1016/j.bbrep.2016.08.014.

Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation.

Watanabe K, Yamada K, Sameshima K, Yamaguchi S

Molecular genetics and metabolism reports 2018; (15()):121-123 doi:10.1016/j.ymgmr.2018.03.007.

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).

Hesse J, Braun C, Behringer S, et al.

Journal of inherited metabolic disease 2018; (41(6)):1169-1178 doi:10.1007/s10545-018-0245-5.

Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.

Yamada K, Taketani T

Journal of human genetics 2019; (64(2)):73-85 doi:10.1038/s10038-018-0527-7.

Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result.

Atkins AE, Tarini BA, Phillips EK, Calhoun ARUL

Journal of community genetics 2019; (10(4)):447-451 doi:10.1007/s12687-019-00409-8.

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Bleeker JC, Kok IL, Ferdinandusse S, et al.

Journal of inherited metabolic disease 2019; (42(1)):159-168 doi:10.1002/jimd.12037.

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.

Bleeker JC, Kok IL, Ferdinandusse S, et al.

Journal of inherited metabolic disease 2019; (42(3)):414-423 doi:10.1002/jimd.12075.

Parents' experience with positive newborn screening results for cystic fibrosis.

Brockow I, Nennstiel U

European journal of pediatrics 2019; (178(6)):803-809 doi:10.1007/s00431-019-03343-6.

Combined HIIT and Resistance Training in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report.

Herrera-Olivares AM, Fernández-Luque JA, Paradas C, et al.

Frontiers in physiology 2019; (10()):650 doi:10.3389/fphys.2019.00650.

Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby.

Yamada K, Matsubara K, Matsubara Y, et al.

JIMD reports 2019; (49(1)):17-20 doi:10.1002/jmd2.12061.

Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.

Yamada K, Osawa Y, Kobayashi H, et al.

Molecular genetics and metabolism reports 2019; (21()):100535 doi:10.1016/j.ymgmr.2019.100535.

Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Bleeker JC, Visser G, Clarke K, et al.

Journal of inherited metabolic disease 2020; (43(4)):787-799 doi:10.1002/jimd.12217.

Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.

Knottnerus SJG, Mengarelli I, Wüst RCI, et al.

International journal of molecular sciences 2020; (21(7)) doi:10.3390/ijms21072589.

Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).

Fatehi F, Okhovat AA, Nilipour Y, et al.

European journal of neurology 2020; (27(11)):2257-2266 doi:10.1111/ene.14402.

Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies.

Lin Y, Zhang W, Chen D, et al.

Clinica chimica acta; international journal of clinical chemistry 2020; (510()):285-290 doi:10.1016/j.cca.2020.07.038.

False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight.

Bo R, Awano H, Nishida K, et al.

Molecular genetics and metabolism reports 2020; (24()):100634 doi:10.1016/j.ymgmr.2020.100634.

[Genetic analysis of a child with very long chain acyl-CoA dehydrogenase deficiency].

Xu X, Zhang X, Lin S, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(9)):1009-1013 doi:10.3760/cma.j.cn511374-20191114-00578.

Evidence that Oxidative Disbalance and Mitochondrial Dysfunction are Involved in the Pathophysiology of Fatty Acid Oxidation Disorders.

Ribas GS, Vargas CR

Cellular and molecular neurobiology 2022; (42(3)):521-532 doi:10.1007/s10571-020-00955-7.

Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.

Elizondo G, Matern D, Vockley J, et al.

Molecular genetics and metabolism 2020; (131(1-2)):90-97 doi:10.1016/j.ymgme.2020.09.001.

Psychological Impact on Parents of an Inconclusive Diagnosis Following Newborn Bloodspot Screening for Cystic Fibrosis: A Qualitative Study.

Johnson F, Southern KW, Ulph F

International journal of neonatal screening 2019; (5(2)):23 doi:10.3390/ijns5020023.

Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.

Van Calcar SC, Sowa M, Rohr F, et al.

Molecular genetics and metabolism 2020; (131(1-2)):23-37 doi:10.1016/j.ymgme.2020.10.001.

Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka.

Wijayabandara M, Gamakaranage C, Hettiarachchi D

Case reports in genetics 2020; (2020()):8894518 doi:10.1155/2020/8894518.

Recent Advances in the Pathophysiology of Fatty Acid Oxidation Defects: Secondary Alterations of Bioenergetics and Mitochondrial Calcium Homeostasis Caused by the Accumulating Fatty Acids.

Amaral AU, Wajner M

Frontiers in genetics 2020; (11()):598976 doi:10.3389/fgene.2020.598976.

Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation.

Verkerk AO, Knottnerus SJG, Portero V, et al.

Frontiers in pharmacology 2020; (11()):616834 doi:10.3389/fphar.2020.616834.

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.

Remec ZI, Groselj U, Drole Torkar A, et al.

Frontiers in genetics 2021; (12()):648493 doi:10.3389/fgene.2021.648493.

The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency.

Bo R, Awano H, Yamada K, et al.

Molecular genetics and metabolism reports 2021; (27()):100760 doi:10.1016/j.ymgmr.2021.100760.

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.

Hagemeijer MC, Oussoren E, Ruijter GJG, et al.

JIMD reports 2021; (61(1)):12-18 doi:10.1002/jmd2.12223.

Absorbing it all: A meta-ethnography of parents' unfolding experiences of newborn screening.

White AL, Boardman F, McNiven A, et al.

Social science & medicine (1982) 2021; (287()):114367 doi:10.1016/j.socscimed.2021.114367.

Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.

Yang C, Shi C, Zhou C, et al.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2021; (50(4)):472-480 doi:10.3724/zdxbyxb-2021-0259.

Defects in Very Long-Chain Fatty Acid Oxidation Presenting as Different Types of Cardiomyopathy.

Alaei F, Shakiba M, Saneifard H, et al.

Case reports in cardiology 2022; (2022()):5529355 doi:10.1155/2022/5529355.

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Presenting as Rhabdomyolysis.

Ahmed A, de Buitleir C, Elsheik N, Sweeney M

Irish medical journal 2022; (115(3)):565.

Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency.

Prew MS, Camara CM, Botzanowski T, et al.

Nature communications 2022; (13(1)):3669 doi:10.1038/s41467-022-31466-2.

Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency.

Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association , Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2022; (51(1)):122-128 doi:10.3724/zdxbyxb-2022-0107.

Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders.

Balci MC, Karaca M, Ergul Y, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2022; (64(1)):e15317 doi:10.1111/ped.15317.

Ketogenic diet in children and adolescents: The effects on growth and nutritional status.

Corsello A, Trovato CM, Di Profio E, et al.

Pharmacological research 2023; (191()):106780 doi:10.1016/j.phrs.2023.106780.

Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.

Flowers M, Dickson A, Miller MJ, et al.

Molecular genetics and metabolism 2023; (140(3)):107668 doi:10.1016/j.ymgme.2023.107668.

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives.

Crawford S, Sablon E, Ali N, et al.

International journal of neonatal screening 2023; (9(4)) doi:10.3390/ijns9040053.

Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.

Schwantje M, Mosegaard S, Knottnerus SJG, et al.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2024; (38(4)):e23478 doi:10.1096/fj.202302163R.

Growth patterns of children under 5 years old in rural area northern of Abha, Aseer Region, Saudi Arabia.

Alsaleem SA

PloS one 2024; (19(2)):e0297279 doi:10.1371/journal.pone.0297279.

Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study.

Bani M, Russo S, Gasperini S, et al.

BMJ paediatrics open 2024; (8(1)) doi:10.1136/bmjpo-2024-003103.

Assessment of Fasting Metabolism With Microdialysis Indicates Earlier Lipolysis in Children With VLCADD Than MCADD.

Olsson D, Haglind CB, Halldin M, et al.

Acta paediatrica (Oslo, Norway : 1992) 2025; (114(6)):1445-1455 doi:10.1111/apa.17591.

Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.

Alsharhan H, Ahmed AA, Abdullah M, et al.

International journal of neonatal screening 2025; (11(1)) doi:10.3390/ijns11010019.

The Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Sharma S, McKenzie M

Biomolecules 2025; (15(3)) doi:10.3390/biom15030416.

Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol.

Crenshaw MM, D'Annibale OM, Schechter A, et al.

Molecular genetics and metabolism 2025; (145(1)):109104 doi:10.1016/j.ymgme.2025.109104.

A Review of Newborn Screening for VLCADD: The Wisconsin Experience.

Mitchell B, Scott-Schwoerer J, Kuhl A, et al.

International journal of neonatal screening 2025; (11(2)) doi:10.3390/ijns11020023.

Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss.

Morishima S, Shimada Y, Watanabe Y, Ihara K

International journal of neonatal screening 2025; (11(2)) doi:10.3390/ijns11020033.

ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.

Baldo F, Zupin L, Magnolato A, et al.

Genes 2025; (16(5)) doi:10.3390/genes16050538.

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases.

Langeveld M, Sirrs S, Schoenmakers DH, et al.

Journal of inherited metabolic disease 2025; (48(4)):e70057 doi:10.1002/jimd.70057.

Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Patient.

Wang Q, Yang J, Xu Y, et al.

Molecular genetics & genomic medicine 2025; (13(7)):e70120 doi:10.1002/mgg3.70120.

Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder.

Berrios C, Gadea R, Strenk M, et al.

Molecular genetics and metabolism 2025; (146(3)):109235 doi:10.1016/j.ymgme.2025.109235.

Caregivers' Emotional Responses Triggered by a False-Positive VLCADD in Newborn Screening in Oita Prefecture.

Morishima S, Shimada Y, Ihara K

International journal of neonatal screening 2025; (11(4)) doi:10.3390/ijns11040090.

Perioperative Management of a Patient With Very Long Chain Acyl-CoA Dehydrogenase Deficiency Undergoing Laparoscopic Sleeve Gastrectomy: First Report of Bariatric Surgery in VLCADD.

Baig MA, Williams B

Obesity surgery 2026; (36(1)):341-344 doi:10.1007/s11695-025-08347-w.

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Schwantje M, Maase RE, Dekkers E, et al.

Journal of inherited metabolic disease 2026; (49(2)):e70143 doi:10.1002/jimd.70143.

Two distinct growth patterns of preterm infants from birth to 18 months of corrected gestational age: a retrospective cohort study.

Wang J, Shang G, He M, et al.

Translational pediatrics 2026; (15(4)):129 doi:10.21037/tp-2026-1-0011.