Medium-chain acyl-CoA dehydrogenase deficiency in the neonatal period: a case report
Department of Neonatology, Neonatal Intensive Care Unit and Neonatal Pathology, Polish Mother’s
Memorial Hospital – Research Institute, Łódz, Poland
Pediatr Endocrinol Diabetes Metab 2026; 32 (3):
Data publikacji online: 2026/08/14
Article file
- Mason E, Hindmarch C, Dunham-Snary K. Medium-chain acyl-CoA dehydrogenase deficiency: pathogenesis, diagnosis, and treatment. Endocrinol Diabetes Metab 2022; 6: e385. doi: 10.1002/edm2.385.
- Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA, et al. Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. Mol Genet Metab 2010; 99: 263–268. doi: 10.1016/j.ymgme.2009.10.188.
- Sander S, Janzen N, Janetzky B, et al. Neonatal screening for medium chain acyl-CoA deficiency: high incidence in Lower Saxony (northern Germany). Eur J Pediatr 2001; 160: 318–319. doi: 10.1007/pl00008439.
- Gregersen N, Winter V, Curtis D, et al. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. Hum Hered 1993; 43: 342–350. doi: 10.1159/000154157.
- Rodwell V, Bender D, Botham KM, et al. Biochemia Harpera. Ilustrowana. 7 ed. Warsaw: PZWL; 2018.
- Rhead WJ. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. J Inherit Metab Dis 2006; 29: 370–377. doi: 10.1007/s10545-006-0292-1.
- Matern D, Rinaldo P, Pagon RA, et al. Medium-chain acyl-coenzyme A dehydrogenase deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2024.
- Weiss KJ, Berger U, Haider M, et al. Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: genotype-phenotype correlation. Clin Genet 2023; 103: 644-654. doi: 10.1111/cge.14316.
- Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405–424. doi: 10.1038/gim.2015.30.
- Rizzo JM, Buck MJ. Key principles and clinical applications of “next-generation” DNA sequencing. Cancer Prev Res (Phila) 2012; 5: 887–900. doi: 10.1158/1940-6207.CAPR-11-0432.
- Grosse SD, Khoury MJ, Greene CL, et al. The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. Genet Med 2006; 8: 205–212. doi: 10.1097/01.gim.0000204472.25153.8d.
- Chang I, Lam C, Vockley J. Medium-chain acyl-coenzyme a dehydrogenase deficiency. Avaible at: https://www.ncbi.nlm.nih.gov/books/NBK1424/ (Accessed 20 Jul 2025).
- Ibrahim S, Temtem T. Medium-chain acyl-CoA dehydrogenase deficiency. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2021.
- Iafolla A, Thompson R, Roe C. Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr 1994; 124: 409–415. doi: 10.1016/s0022-3476(94)70363-9.
- Baruteau J, Levade T, Redonnet-Vernhet I, et al. Hypoketotic hypoglycemia with myolysis and hypoparathyroidism: an unusual association in medium chain acyl-CoA desydrogenase deficiency (MCADD). J Pediatr Endocrinol Metab 2009; 22: 1175–1177.
- Yusupov R, Finegold DN, Naylor EW, et al. Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab 2010; 101: 33–39. doi: 10.1016/j.ymgme.2010.05.007.
- Baruteau J, Sachs P, Broue P, et al. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients. J Inherit Metab Dis 2013; 36: 795–803. doi: 10.1007/s10545-012-9542-6.
- McGregor TL, Berry SA, Dipple KM, Hamid R. Management principles for acute illness in patients with medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatrics. 2021; 147: e2020040303. doi: 10.1542/peds.2020-040303.
- Maguolo A, Rodella G, Dianin A, et al. Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: a single centre experience. Mol Genet Metab Rep 2020; 24: 100632. doi: 10.1016/j.ymgmr.2020.100632.
- Kormanik K, Kang H, Cuebas D, et al. Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate. Mol Genet Metab 2012; 107: 684–689. doi: 10.1016/j.ymgme.2012.10.009.
- Schowalter DB, Matern D, Vockley J. In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector. Mol Genet Metab 2005; 85: 88–95. doi: 10.1016/j.ymgme.2005.02.006.

