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Article

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

1ICU Department Zayed Military Hospital Abu Dhabi, UAE


American Journal of Medical Case Reports. 2024, Vol. 12 No. 3, 33-37
DOI: 10.12691/ajmcr-12-3-2
Copyright © 2024 Science and Education Publishing

Cite this paper:
S. AlKaabi, R. Ebead, M. Khames, M. Amin, S. Ahmed, A. Gupta, 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.

Correspondence to: M.  Khames, ICU Department Zayed Military Hospital Abu Dhabi, UAE. Email: Magdy.aly@msc.mil.ae

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.

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