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Congenital disorders of glycosylation (CDGs) are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid biosynthesis that cause multisystem diseases. Individuals with ALG3-CDG frequently exhibit severe neurological involvement (epilepsy, microcephaly, and hypotonia), ocular anomalies, dysmorphic features, skeletal anomalies, and feeding difficulties. We present 10 unreported individuals diagnosed with ALG3-CDG based on molecular and biochemical testing with 11 novel variants in ALG3, bringing the total to 40 reported individuals. In addition to the typical multisystem disease seen in ALG3-CDG, we expand the symptomatology of ALG3-CDG to now include endocrine abnormalities, neural tube defects, mild aortic root dilatation, immunodeficiency, and renal anomalies. N-glycan analyses of these individuals showed combined deficiencies of hybrid glycans and glycan extension beyond Man5 GlcNAc2 consistent with their truncated lipid-linked precursor oligosaccharides. This spectrum of N-glycan changes is unique to ALG3-CDG. These expanded features of ALG3-CDG facilitate diagnosis and suggest that optimal management should include baseline endocrine, renal, cardiac, and immunological evaluation at the time of diagnosis and with ongoing monitoring. © 2021 SSIEM.

Citation

Hind Alsharhan, Bobby G Ng, Earnest James Paul Daniel, Jennifer Friedman, Eniko K Pivnick, Amal Al-Hashem, Eissa Ali Faqeih, Pengfei Liu, Nicole M Engelhardt, Kierstin N Keller, Jie Chen, Pamela A Mazzeo, University of Washington Center for Mendelian Genomics (UW-CMG), Jill A Rosenfeld, Michael J Bamshad, Deborah A Nickerson, Kimiyo M Raymond, Hudson H Freeze, Miao He, Andrew C Edmondson, Christina Lam. Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. Journal of inherited metabolic disease. 2021 Jul;44(4):987-1000

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PMID: 33583022

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