Early Infantile Epileptic Encephalopathy in asparagine-linked glycosylation thirteen (ALG13) gene defect and dramatic response with Ketogenic diet Authors Prem Chand Department of Paediatrics and Child Health, Aga Khan University, Karachi, Pakistan Asna Sulaiman Aga Khan University, Karachi, Pakistan Meher Angez 4th Year MBBS Student, Aga Khan University, Karachi, Pakistan https://orcid.org/0000-0002-4490-4453 Salman Kirmani Department of Paediatrics and Child Health, Aga Khan University, Karachi, Pakistan DOI: https://doi.org/10.47391/JPMA.6750 Abstract Asparagine-linked glycosylation thirteen (ALG13) gene-related congenital disorders of glycosylation (CDGs) include early onset epileptic encephalopathy (EIEE), developmental delays (DD) with intellectual disability (ID), speech and visual abnormalities, and haematologic and endocrine dysfunctions. Worldwide there is a scarcity of available data on this. To add to this scarce data, we report the case of a young girl with this rare genetic mutation who showed remarkable improvement in her seizures by addition of ketogenic diet (KD) to her management regimen. With an already high rate of consanguineous marriages, metabolic and genetic errors are widely prevalent; hence, to bridge the huge gap in the understanding of such diseases, further research and trials are needed to be carried out to improve identification of the disease along with outcomes. Keywords: AGLT13 mutation, epileptic encephalopathy and ketogenic diet. References None Downloads Full Text Article Published 2023-06-15 How to Cite Prem Chand, Sulaiman, A., Angez , M., & Kirmani, S. (2023). Early Infantile Epileptic Encephalopathy in asparagine-linked glycosylation thirteen (ALG13) gene defect and dramatic response with Ketogenic diet. Journal of the Pakistan Medical Association, 73(7), 1521–1523. https://doi.org/10.47391/JPMA.6750 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 73 No. 7 (2023): JULY Section CASE REPORT License Copyright (c) 2023 Journal of the Pakistan Medical Association This work is licensed under a Creative Commons Attribution 4.0 International License.