Compound Heterozygous SLC22A5 Pathogenic Variants Presenting with ADHD and Silent Hyperammonemia in a Lebanese Child
ANTOUN Christophe1, MAALOUF George1, SHAIB Mohamad1, SOKHN Maroun1,2, MEGARBANE Andre3,4, YOUSSEF Dany5, MANSOUR Hicham1,2*
1Faculty of Medicine, Saint George University of Beirut, Lebanon.
2Department of Pediatrics, Saint George University Medical Center, Lebanon.
3Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Lebanon.
4Institut Jerome Lejeune, Paris, France.
5Pediatric Cardiology department, Beirut Cardiac Institute, Beirut, Lebanon.
*Corresponding Author: MANSOUR Hicham, Faculty of Medicine, Saint George University of Beirut, Lebanon.
https://doi.org/10.58624/SVOAPD.2025.04.020
Received: October 17, 2025
Published: November 21, 2025
Citation: Antoun C, Maalouf G, Shaib M, Sokhn M, Megarbane A, Youssef D, Mansour H. Compound Heterozygous SLC22A5 Pathogenic Variants Presenting with ADHD and Silent Hyperammonemia in a Lebanese Child. SVOA Paediatrics 2025, 4:6, 134-138. doi: 10.58624SVOAPD.2025.04.020
Abstract
With the continuous change in teaching methods and the increased exposure to screens, ADHD as well as multiple forms of learning disabilities are becoming very common, and are dealt with as a psychosocial disorder. The search for an underlying organic cause should always be considered specially when dealing with patients from highly consanguineous societies. In this paper we present the case of a patient presenting with a severe case of ADHD with a silent hyperammonemia, caused by novel compound heterozygous variants in the SLC22A5 gene and responding to treatment by oral L-Carnitine supplementation.
Keywords: SCL22A5, Carnitine Deficiency, ADHD, Learning Disability, Treatable, Silent Hyperammonemia