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Identification of two novel variants in ALG11 causing congenital disorder of glycosylation.

Seizure - 1 Oct 2024

Zhao Peiwei, Zhang Xiankai, Duan Zhengrong, Wan Chunhui, Zhang Lei, Luo Sukun, Zhu Hongmin, He Xuelian

Abstract excerpt

BACKGROUND: Congenital disorders of glycosylation (CDG) represent a heterogeneous group of rare inherited metabolic disorders due to abnormalities in protein or lipid glycosylation pathways, affecting multiple systems, and frequently being accompanied by neurological symptoms. ALG11-CDG, also known as CDG-1p, arises from a deficiency in a specific mannosyltransferase encoded by the ALG11 gene. To date, only 17...

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PMID: 39260222
DOI: 10.1016/j.seizure.2024.07.020

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