Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience
Published in Genetics & Genomics, General & Internal Medicine, and Paediatrics, Reproductive Medicine & Geriatrics
This study emerged from an urgent clinical need. We evaluated 54 children with unexplained neurological and metabolic symptoms at our center. Many of these patients had a history of consanguinity and had previously undergone long diagnostic journeys without clear answers. By applying WES, we identified pathogenic or likely pathogenic variants in 52% of cases and clinically relevant findings in 83%, including 14 novel mutations not previously reported.
Beyond diagnosis, WES had a direct impact on patient care:
Diagnostic reclassification occurred in 83% of cases
Treatment plans were adjusted in 74% of cases
Prognostic clarity and preventive counseling became possible for the majority of families
Our work highlights the transformative role of WES in diagnosing rare pediatric conditions, particularly in populations with high consanguinity and limited access to traditional genetic services. We hope this study encourages the integration of genomic diagnostics into neurology and pediatrics in similar settings worldwide.
We invite you to read our paper and join the conversation.
https://rdcu.be/ek5is
I am Dr. Rawan Al Khudari, a general pediatrician and clinical researcher with a strong academic record and deep commitment to advancing child health. I graduated top of my class and was honored for academic excellence. I also served as chief resident during my pediatric residency, where I developed leadership skills and mentored junior colleagues. My clinical and research interests span various pediatric fields, and I aspire to pursue a subspecialty in pediatric cardiology. I am passionate about evidence-based care, academic growth, and contributing meaningfully to the global pediatric community.
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Orphanet Journal of Rare Diseases
An open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs and publishes high-quality reviews on specific rare diseases.
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This Collection delves into the latest advancements and challenges in the field of adult inherited metabolic disorders (IMD). The Collection will bring together articles that explore various aspects of IMD, providing valuable insights for clinicians, researchers, and healthcare professionals.
Topics included (but not limited to):
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6. Long term outcomes of enzyme replacement therapies- success and pitfalls.
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This Collection aims to provide a comprehensive update on the current state of adult inherited metabolic disorders, fostering a deeper understanding and encouraging further research in this evolving field.
All submissions in this collection undergo the journal’s standard peer review process. Similarly, all manuscripts authored by a Guest Editor(s) will be handled by the Editor-in-Chief. As an open access publication, this journal levies an article processing fee (details here). We recognize that many key stakeholders may not have access to such resources and are committed to supporting participation in this issue wherever resources are a barrier. For more information about what support may be available, please visit OA funding and support, or email OAfundingpolicy@springernature.com or the Editor-in-Chief.
Publishing Model: Open Access
Deadline: Jan 31, 2026
