A Case Study of Very Long Fatty Acid Dehydrogenase Deficiency Presented by Irritability and Seizures

S. AlKaabi¹, R. Ebead¹, M. Khames^1, , M. Amin¹, S. Ahmed¹, A. Gupta¹ and E. Marzouk¹

¹ICU Department Zayed Military Hospital Abu Dhabi, UAE

Cite this paper

S. AlKaabi, R. Ebead, M. Khames, M. Amin, S. Ahmed, A. Gupta and E. Marzouk. A Case Study of Very Long Fatty Acid Dehydrogenase Deficiency Presented by Irritability and Seizures. American Journal of Medical Case Reports. 2024; 12(3):33-37. doi: 10.12691/AJMCR-12-3-2

Abstract

This case study presents the clinical course and management of an 18-year-old male patient diagnosed with very long fatty acid dehydrogenase deficiency (VLCADD). The patient exhibited recurrent episodes of rhabdomyolysis accompanied by acute kidney injury (AKI) and elevated liver enzymes. Presented to us by irritability and restlessness and 3 episodes of seizures. The purpose of this case study is to highlight the challenges in diagnosing and managing this rare metabolic disorder and to emphasize the importance of early recognition and intervention to prevent further complications.

Keywords

VLCADD, very long fatty acid dehydrogenase (FAD), rhabdomyolysis, seizure

Copyright

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

References

[1]	A. Boneh et al., “VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis,” Mol Genet Metab, vol. 88, no. 2, pp. 166–170, Jun. 2006.
[2]	J. G. Loeber et al., “Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010,” International Journal of Neonatal Screening 2021, Vol. 7, Page 15, vol. 7, no. 1, p. 15, Mar. 2021.
[3]	M. Lindner, G. F. Hoffmann, and D. Matern, “Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting,” J Inherit Metab Dis, vol. 33, no. 5, pp. 521–526, Oct. 2010.
[4]	U. Spiekerkoetter et al., “Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop,” J Inherit Metab Dis, vol. 32, no. 4, pp. 498–505, Aug. 2009.
[5]	G. L. Arnold et al., “A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency,” Mol Genet Metab, vol. 96, no. 3, pp. 85–90, Mar. 2009.
[6]	J. L. Merritt et al., “Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening,” Mol Genet Metab, vol. 111, no. 4, pp. 484–492, Apr. 2014.
[7]	N. Leslie and S. Saenz-Ayala, “Very long-chain acyl-coenzyme A dehydrogenase deficiency,” 2022, Accessed: Mar. 05, 2024. [Online]. Available: https://europepmc.org/books/nbk6816
[8]	I. J. Lawrence Merritt, M. Norris, and S. Kanungo, “Fatty acid oxidation disorders,” Ann Transl Med, vol. 6, no. 24, pp. 181–183, Apr. 2018.
[9]	J. C. Bleeker et al., “Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency,” J Inherit Metab Dis, vol. 42, no. 1, pp. 159–168, Jan. 2019.
[10]	E. F. Diekman et al., “Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency,” Genet Med, vol. 17, no. 12, pp. 989–994, Dec. 2015.
[11]	E. F. Diekman et al., “Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency,” Genetics in Medicine, vol. 17, no. 12, pp. 989–994, Dec. 2015.
[12]	M. Evans, B. S. Andresen, J. Nation, and A. Boneh, “VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria,” Mol Genet Metab, vol. 118, no. 4, pp. 282–287, Aug. 2016.
[13]	P. Ruiz-Sala and L. Peña-Quintana, “Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases,” J Clin Med, vol. 10, no. 21, 2021.