AI Article Synopsis

  • Congenital disorders of glycosylation (CDGs) are genetic disorders that disrupt glycoprotein and glycolipid production, leading to various health issues, with ALG3-CDG being highlighted for its severe neurological and multisystem involvement.* -
  • A study reported on 10 new cases of ALG3-CDG, identifying 11 novel genetic variants, increasing the total number of known cases to 40, and broadening the symptoms associated with this disorder to include endocrine issues, neural tube defects, and more.* -
  • N-glycan analysis revealed distinct glycan deficiencies in these patients, which are characteristic of ALG3-CDG, indicating that a thorough evaluation of endocrine, renal, cardiac, and immun

Article Abstract

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 Man GlcNAc 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8282734PMC
http://dx.doi.org/10.1002/jimd.12367DOI Listing

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