Read the paper here.
Learn more about FCDGC.
Transcript:
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC), a research group of the Rare Diseases Clinical Research Network.
Diagnosing a New Case of Mannosyl-Oligosaccharide Glucosidase-Congenital Disorder of Glycosylation.
This summary is based on a paper published in the journal Clinical Chemistry on April 25, 2025.
Congenital disorders of glycosylation (CDG) are a large group of rare, inherited disorders that affect a complex process in the body called glycosylation. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG is a very rare type of CDG caused by mutations in the MOGS gene.
In this journal article, researchers describe the diagnosis of a new case of MOGS-CDG. The 40-year-old male patient presented with symptoms including pan-hypogammaglobulinemia (low immunoglobulin levels). Researchers performed several tests, including an immune genetic disease gene panel and N-glycan analysis. Results confirmed a diagnosis of MOGS-CDG.
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