What is CDG diagnosis?

Congenital disorders of glycosylation (CDG) are a large group of rare genetic disorders that affect the addition of sugar building blocks, called glycans, to proteins in cells throughout the body. The addition of glycans to proteins is critical to the healthy function of cells.

What is glycosylation and how is it caused?

Glycosylation is the process by which sugar ‘trees’ (glycans) are created, altered and attached to 1000’s of proteins or fats (lipids). When these sugar molecules are attached to proteins, they form glycoproteins; when they are attached to lipids, they form glycolipids.

What is PMM2-CDG?

Disease definition. PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia.

What is ALG11 CDG?

ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation.

What is CDG life expectancy?

Treatment and prognosis. PMM2-CDG can be lethal in 20% of patients in the first 4 years of life. Individuals, who survive to childhood have a good life expectancy. The oldest PMM2-CDG patient is in her late 40s.

How many proteins are glycosylated?

A total of 534 proteins were identified, 406 of which were previously not known to be glycosylated. Many proteins in the secretory pathway were identified, as well as other functional classes of proteins, including TFs and mitochondrial proteins.

Why glycosylation is important?

Glycosylation is an important and highly regulated mechanism of secondary protein processing within cells. It plays a critical role in determining protein structure, function and stability. Structurally, glycosylation is known to affect the three dimensional configuration of proteins.