Congenital Disorders of Glycosylation (CDG): Comprehensive Screening Assay [Featured Topic]

Congenital disorders of glycosylation (CDG) are a group of more than 45 inherited conditions affecting several steps in the glycosylation of proteins. CDG can present with a broad clinical spectrum from developmental delay to multiorgan involvement (eg, liver disease, developmental delay, failure to thrive, chronic diarrhea, abnormal subcutaneous fat distribution, retinitis pigmentosa, cutis laxa, etc.).

CDG are classified into 2 groups:

  • Type I CDG - Characterized by defects in the assembly or transfer of the dolichol-linked glycan
  • Type II - Involves glycan processing defects

A third type- SLC35A2- was recently recognized with new genetic defects.

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