FCDGC: Diagnosing a New Case of Mannosyl-Oligosaccharide Glucosidase-Congenital Disorder of Glycosylation

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Rare Research Report

RDCRN

180 episodes

2 weeks ago

Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.

Learn more about the RDCRN: https://www.rarediseasesnetwork.org

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FCDGC: Diagnosing a New Case of Mannosyl-Oligosaccharide Glucosidase-Congenital Disorder of Glycosylation

Rare Research Report

1 minute

2 months ago

FCDGC: Diagnosing a New Case of Mannosyl-Oligosaccharide Glucosidase-Congenital Disorder of Glycosylation

New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Clinical Chemistry on April 25, 2025, titled "Congenital Disorder of Glycosylation in a 40-Year-Old Male with Hypogammaglobulinemia."

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.