Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant
Our findings represent the first clinical and molecular characterization of alpha-mannosidosis in Iraqi children and reveal previously unreported genetic features in this population. It highlights that clinical and laboratory findings in our patients were largely consistent with previously published regional and international data. It demonstrates notable diagnostic delay and identified novel variants, expanding the mutational spectrum associated with the disease.
Authors
- Saja Baheer Abdulwahhab
- Ikhlas Ali Ahmed
- Hala Sameh Arif
- Nebal Waill Saadi
- Marwa Sabah Alothman
- Mays Riyadh Al Tai
Institutions
- University of Baghdad (IQ)
- Baghdad Medical City (IQ)
- Nahrain University (IQ)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2026-01-09
- DOI
- https://doi.org/10.1016/j.ymgmr.2025.101282
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00