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.

A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes.

CDG stands for Congenital Disorders of Glycosylation. CDGs are a large group of rare inherited diseases affecting glycosylation. What is Glycosylation? Glycosylation is the process of adding sugar building blocks (also called glycans) to proteins. Even though glycans are made of many sugars this is not related to blood sugar levels or diabetes.

2025年1月30日 · CDG is a hereditary disorder and presents from early childhood to adulthood. To help people with CDG, Mayo Clinic's Congenital Disorders of Glycosylation (CDG) Clinic care team is staffed by specialists, such as: Specialized geneticist — provides diagnostic and follow-up care plans and advises on therapy.

Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins.

Check your child’s blood or spit (saliva) for some of the gene changes that cause specific CDG conditions. Our genetic counselors will explain the test options and what to expect. Your child’s healthcare team can explain the type of CDG your child …

2021年5月11日 · Congenital disorders of glycosylation (CDG) is an umbrella term for a rapidly expanding group of over 130 rare genetic, metabolic disorders due to defects in a complex chemical process known as glycosylation. Glycosylation is the process by which sugar ‘trees’ (glycans) are created, altered and attached to 1000’s of proteins or fats (lipids).

CDG due to glycosaminoglycan (GAG) synthesis defects affect the creation of GAGs — repeating patterns of different sugars that form structures for connective tissue. GAG synthesis defects may cause problems in bones, cartilage, ligaments, skin and eyes. Learn more about the different forms of Congenital Disorders of Glycosylation (CDG).

2005年8月15日 · Congenital disorders of N-linked glycosylation (CDG-N-linked) pathway – for the purposes of this GeneReview – refers to disorders of the N-linked glycan synthetic pathway and some disorders that overlap this metabolic network – …

Congenital disorders of glycosylation (CDG), previously known as carbohydrate-deficient glycoprotein syndromes, constitute a group of inborn errors of metabolism (IEM) characterized by impaired synthesis and attachment of glycans to glycoproteins and glycolipids and impaired synthesis of glycosylphosphatidylinositol.