A Novel Variant of ASL Gene Mutation in a Lebanese Neonate with Severe Argininosuccinic Aciduria Phenotype
HAMOUCHE Naji1,2, TOHME Rana1,2, EL ACHKAR Mariella1,2, HMAIMESS Ghassan1,2, BAYDOUN Abed El Karim1,2, SOKHN Maroun2,3, GHABRIL Ramy2,3, GHADIEH Joëlle M3,4, NAOUFAL Rania2,5, KHNEISSER Issam6, FATTAH Mohamad7, KHOURY Jacqueline8, MANSOUR Hicham1,2*
1 Department of Pediatrics, Neurometabolic Unit, Saint George University Medical Center, Lebanon.
2 Faculty of Medicine, Saint George University of Beirut, Lebanon.
3 Department of Pediatrics, Saint George University Medical Center, Lebanon.
4 Department of Pediatric Intensive Care, Saint George University Medical Center, Lebanon.
5 Department of Genetics, Saint George University Medical Center, Lebanon.
6 Jacques Loiselet Medical Genetics and Genomic Center, Faculty of Medicine USJ, Lebanon.
7 Department of Pediatrics, Military Hospital, Beirut, Lebanon.
8 Mecapharma, Lebanon.
*Corresponding Author: MANSOUR Hicham, Department of Pediatrics, Neurometabolic Unit, Saint George University Medical Center, Lebanon.
DOI: https://doi.org/10.58624/SVOAPD.2023.02.050
Received: September 23, 2023 Published: October 30, 2023
Abstract
Argininosuccinic aciduria is a urea cycle defect associated with deficiency in argininosuccinate lyase enzyme, leading to a severe hyperammonemic encephalopathy, epilepsy and hepatopathy. Only very few known mutations have been linked with a severe phenotype. Here we report the case of a Lebanese newborn child with a very early manifestation of argininosuccinic aciduria, his genetic studies confirmed the presence of a mutation in the ASL gene (c.697A>C p. (Thr233Pro) at the homozygous state. To our knowledge, this is the first time this variant has been reported in literature.
Keywords: Argininosuccinic aciduria, Urea Cycle defect, ASL gene, Hyperammonemia, Neonatal Screening.
Citation: Hamouche N, Tohme R, El Achkar M, Hmaimess G, El Karim BA, Sokhn M, Ghabril R, Ghadieh JM, Naoufal R, Khneisser I, Fattah M, Khoury J, Mansour H. A Novel Variant of ASL Gene Mutation in a Lebanese Neonate with Severe Argininosuccinic Aciduria Phenotype. SVOA Paediatrics 2023, 2:6, 156-159.