Research & Literature

Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency.

Gartner V, McGuire PJ, Lee PR

Neurology 2015; (85(4)):e37-40 doi:10.1212/WNL.0000000000001786.

Fatty Acid Beta-Oxidation Disorders: A Brief Review.

Vishwanath VA

Annals of neurosciences 2016; (23(1)):51-5 doi:10.1159/000443556.

A retrospective review of anesthesia and perioperative care in children with medium-chain acyl-CoA dehydrogenase deficiency.

Allen C, Perkins R, Schwahn B

Paediatric anaesthesia 2017; (27(1)):60-65 doi:10.1111/pan.13065.

Identification of enzymes involved in oxidation of phenylbutyrate.

Palir N, Ruiter JPN, Wanders RJA, Houtkooper RH

Journal of lipid research 2017; (58(5)):955-961 doi:10.1194/jlr.M075317.

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.

Karaceper MD, Khangura SD, Wilson K, et al.

Orphanet journal of rare diseases 2019; (14(1)):70 doi:10.1186/s13023-019-1001-0.

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.

Jager EA, Kuijpers MM, Bosch AM, et al.

Journal of inherited metabolic disease 2019; (42(5)):890-897 doi:10.1002/jimd.12102.

Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population.

Li Y, Zhu R, Liu Y, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2019; (61(6)):551-557 doi:10.1111/ped.13872.

Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.

Anderson DR, Viau K, Botto LD, et al.

Molecular genetics and metabolism 2020; (129(1)):13-19 doi:10.1016/j.ymgme.2019.11.006.

Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.

McGregor TL, Berry SA, Dipple KM, et al.

Pediatrics 2021; (147(1)) doi:10.1542/peds.2020-040303.

Coexistence of medium chain acyl-CoA dehydrogenase deficiency (MCADD) and type 1 diabetes (T1D): a management challenge.

Afreh-Mensah D, Agwu JC

BMJ case reports 2021; (14(3)) doi:10.1136/bcr-2020-239325.

Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients.

Gong Z, Liang L, Qiu W, et al.

Frontiers in genetics 2021; (12()):577046 doi:10.3389/fgene.2021.577046.

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net.

Rossi A, Hoogeveen IJ, Lubout CMA, et al.

Journal of inherited metabolic disease 2021; (44(5)):1124-1135 doi:10.1002/jimd.12386.

Successful perioperative management of a pediatric patient with medium-chain acyl-CoA dehydrogenase deficiency using a continuous tissue glucose monitoring device: A case report.

Hidekazu I, Shoji M

Saudi journal of anaesthesia 2021; (15(2)):213-215 doi:10.4103/sja.sja_1041_20.

Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening.

Mütze U, Nennstiel U, Odenwald B, et al.

European journal of pediatrics 2022; (181(6)):2415-2422 doi:10.1007/s00431-022-04421-y.

Plasma carnitine concentrations in Medium-chain acyl-CoA dehydrogenase deficiency: lessons from an observational cohort study.

Jager EA, Schaafsma M, van der Klauw MM, et al.

Journal of inherited metabolic disease 2022; (45(6)):1118-1129 doi:10.1002/jimd.12537.

Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.

Mason E, Hindmarch CCT, Dunham-Snary KJ

Endocrinology, diabetes & metabolism 2023; (6(1)):e385 doi:10.1002/edm2.385.

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) precipitating unexpected death in an infant: Report of a case and a brief review of literature.

Kazemi T, Firgau E, Bunch D, Kahwash SB

The Malaysian journal of pathology 2022; (44(3)):523-526.

A Remimazolam and Remifentanil Anesthetic for a Pediatric Patient With a Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report.

Kiyokawa M, Saito J, Nakai K, Hirota K

A&A practice 2022; (16(12)):e01646 doi:10.1213/XAA.0000000000001646.

A Young Female With Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD): A Case Report.

Yusuf IQ, Venkatesan A, Okafor FC, et al.

Cureus 2023; (15(3)):e36018 doi:10.7759/cureus.36018.

Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD.

Snyder MT, Divin K, Liu N, et al.

Molecular genetics and metabolism 2025; (145(4)):109183 doi:10.1016/j.ymgme.2025.109183.

Lipidomic Profiling of Red Blood Cells in the Mitochondrial Fatty Acid β-oxidation Disorder MCADD Reveals Phospholipid and Sphingolipid Dysregulation.

Guerra IMS, Ferreira HB, Diogo L, et al.

Journal of proteome research 2025; (24(9)):4631-4642 doi:10.1021/acs.jproteome.5c00308.

Energetic stress in combination with impaired fatty acid oxidation induces sequestration of CoA and adaptation of CoA metabolism.

Kiyuna LA, Odendaal C, Singh M, et al.

The FEBS journal 2026; (293(12)):3565-3587 doi:10.1111/febs.70442.