Congenital Disorders of Glycosylation Report

Congenital Disorders of Glycosylation

Congenital disorders of glycosylation (CDG) include a large group of rare genetic diseases in which the process of adding sugar molecules (glycans) to cellular proteins is impaired. This post-translational chemical modification is called "glycation" and is fundamental for the functionality of cells and the organism. There are many subtypes of CDG. The symptoms are vast and involve different parts of the body. Among the most common symptoms are low muscle tone or flaccidity (hypotonia), liver disease, strabismus, developmental delays, abnormal bleeding or blood clotting, stroke-like episodes and heart problems. There is currently no cure for Congenital disorders of glycosylation; treatment is based on symptom management and is aimed at improving the quality of life of affected people.

51 genes analyzed genes analyzed

It is recommended if:

This test may be appropriate for patients in whom a congenital disorder of glycosylation is suspected due to clinical symptoms or biochemical findings. Genetic testing can help in diagnosis and in providing information on risks for other family members.

List of main conditions:

• Congenital disorder of glycosylation, type Ic
• Congenital disorder of glycosylation, type Ia
• Congenital disorder of glycosylation, type Ig
• Congenital disorder of glycosylation, type Il