Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort

• Published in: Genetics in medicine Vol. 22; no. 12; pp. 2071 - 2080
• Main Authors: Alharby, Essa, Faqeih, Eissa A., Saleh, Mohammed, Alameer, Seham, Almuntashri, Makki, Pastore, Annalisa, Samman, Manar A., Alnawfal, Abdullah M., Hashem, Mais, Zaytuni, Dimah, Alharbi, Ghadeer, Almannai, Mohammed, Alasmari, Ali, Mahmoud, Adel A., Alwadei, Ali H., Jad, Lamya, AlOtaibi, Ali, Al-Hakami, Fahad, Eyaid, Wafaa, Alkuraya, Fowzan S., Alfadhel, Majid, Peake, Roy W. A., Almontashiri, Naif A. M.
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.12.2020; Elsevier Limited
• Subjects: Aspartate-Ammonia Ligase - genetics; Biomedical and Life Sciences; Biomedicine; Human Genetics; Humans; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Laboratory Medicine; Microcephaly; Retrospective Studies; Saudi Arabia - epidemiology; Saudi Arabia; cerebral atrophy; dysmorphism; amino acid analysis; asparagine synthetase deficiency; congenital microcephaly

Purpose Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease. Patients may not demonstrate low asparagine levels, which highlights the advantage of molecular over biochemical testing in the initial work-up of ASNSD. We aimed to further delineate the ASNSD variant and phenotypic...