Medium-chain Acyl-CoA Dehydrogenase Deficiency Identified by MS/MS Newborn Screening Challenges
References
- Ibrahim SY, Vaqar S, Temtem T. Medium-chain acyl-CoA dehydrogenase deficiency. 2024 Feb 29. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan. Available from:
https://www.ncbi.nlm.nih.gov/books/NBK560837 - Chang IJ, Lam C, Vockley J. Medium-chain acyl-Coenzyme A dehydrogenase deficiency. 2000 Apr 20 [updated 2024 Sep 26]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301597.
- Kazemi T, Firgau E, Bunch D, Kahwash SB. Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) precipitating unexpected death in an infant: Report of a case and a brief review of literature. Malays J Pathol. 2022;44(3):523–526.
- Maduemem KE. Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycaemia in an apparently well child. BMJ Case Rep. 2016;2016:bcr2016217538. doi: 10.1136/bcr-2016-217538.
- Mason E, Hindmarch CCT, Dunham-Snary KJ. Medium-chain Acyl-CoA dehydrogenase deficiency: pathogenesis, diagnosis, and treatment. Endocrinol Diab Metab. 2023;6:e385. doi: 10.1002/edm2.385.
- Grosse SD, Khoury MJ, Greene CL, Crider KS, Pollitt RJ. The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. Genet Med. 2006;8(4):205–12. doi: 10.1097/01.gim.0000204472.25153.8d.
- Soler-Alfonso C, Bennett M, Ficicioglu C. Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives, Research and Reports in Neonatology, 2016(6): 1–10. doi: 10.2147/RRN.S60617.
- Tucci S, Wagner C, Grünert SC, Matysiak U, Weinhold N, Klein J, Porta F, Spada M, Bordugo A, Rodella G, Furlan F, Sajeva A, Menni F, Spiekerkoetter U. Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: are predictions possible? J Inherit Metab Dis. 2021;44(4):916–925. doi: 10.1002/jimd.12368.
- Yusuf IQ, Venkatesan A, Okafor FC, Yasin A, Oyibo SO. A young female with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): a case report. Cureus. 2023;15(3):e36018. doi: 10.7759/cureus.36018.
- Maier EM. Neonatal screening for medium-chain acyl-CoA deficiency—insights and unexpected challenges. Int J Neonat Screen. 2015;1(3):79–88.
https://doi.org/10.3390/ijns1030079 . - Gjetaa I, Bakallia I, Salaa D, Celaja E, Biqikua M, Hoxhaa V, Velmishi V, Kolaa E. Medium-chain acyl-CoA dehydrogenase deficiency disorder as a cause of acute liver failure in a 23-month-old baby. J Med Cases. 2025;16(3):114–119. doi: 10.14740/jmc5093.
- Chace DH, Hillman SL, Van Hove J, Naylor EW. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry, Clinical Chemistry 1997; 43:11, 2106–2113
- Jager EA, Kuijpers MM, Bosch AM, Mulder MF, Gozalbo ER, Visser G, de Vries M, Williams M, Waterham HR, van Spronsen FJ, Schielen PCJI, Derks TGJ. A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands. J Inherit Metab Dis. 2019;42(5):890–897. doi: 10.1002/jimd.12102.
- Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Hata I, Shigematsu Y, Kobayashi M. Screening of MCAD deficiency in Japan: 16years’ experience of enzymatic and genetic evaluation. Mol Genet Metab. 2016;119(4):322–328. doi: 10.1016/j.ymgme.2016.10.007.
- Mikami-Saito Y, Maekawa M, Wada Y, Kanno T, Kurihara A, Sato Y, Yamamoto T, Arai-Ichinoi N, Kure S. Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab Rep. 2020;25:100674. doi: 10.1016/j.ymgmr.2020.100674.
- Joshi S, Kanade A, Devaskar UP. Point of care blood ketone and glucose concentrations in full term healthy neonates with in first 48 hours of life: the POCK study. Biomed J Sci Tech Res. 2021;36(4):28659–28663. doi: 10.26717/BJSTR.2021.36.005871.
- Snyder MT, Divin K, Liu N, Sun Q, Wang Y, Luo X, Ben-Moshe Y, Burrage LC, Sutton VR. 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. Mol Gen Metab. 2025;145(4):109183. doi: 10.1016/j.ymgme.2025.109183.
- Chudleigh J, Chinnery H, Holder P, Carling RS, Southern K, Olander E, Moody L, Morris S, Ulph F, Bryon M, Simpson A. Processing of positive newborn screening results: a qualitative exploration of current practice in England. BMJ Open. 2020;10(12):e044755. doi: 10.1136/bmjopen-2020-044755.
- Oerton J, Khalid JM, Besley G, Dalton RN, Downing M, Green A, Henderson M, Krywawych S, Leonard J, Andresen BS, Dezateux C. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies. J Med Screen. 2011;18(4):173–81. doi: 10.1258/jms.2011.011086.
DOI: https://doi.org/10.34763/jmotherandchild.20252901.d-25-00025 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
Language: English
Page range: 227 - 233
Submitted on: Jul 18, 2025
Accepted on: Sep 29, 2025
Published on: Dec 4, 2025
Published by: Institute of Mother and Child
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
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© 2025 Ewa Głąb-Jabłońska, Joanna Taybert, Anna Wiśniewska, Mariola Sasin-Rokita, Mariusz Ołtarzewski, Magdalena Chełchowska, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.