Department of Paediatrics and Child Health, Aga Khan University, Karachi, Pakistan.
Aga Khan University, Karachi, Pakistan.
J Pak Med Assoc. 2023 Jul;73(7):1521-1523. doi: 10.47391/JPMA.6750.
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.
天冬酰胺连接糖基化十三型（ALG13）基因相关的先天性糖基化障碍（CDG）包括早发性癫痫性脑病（EIEE）、伴有智力障碍（ID）的发育迟缓（DD）、言语和视觉异常以及血液和内分泌功能障碍。全世界对此类疾病的数据都非常稀缺。为了补充这些稀缺的数据，我们报告了一例患有这种罕见基因突变的年轻女孩，她在管理方案中添加生酮饮食（KD）后，癫痫发作得到了显著改善。由于近亲结婚的比例已经很高，代谢和遗传错误广泛存在；因此，为了缩小对这类疾病的理解差距，需要开展进一步的研究和试验，以提高对疾病的识别能力和改善预后。
