What is SLC35A2 CDG?
SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG, formerly known as congenital disorder of glycosylation type IIm) is an inherited condition that causes neurological problems and other abnormalities. This disorder’s signs and symptoms and their severity vary among affected individuals.
What are the symptoms of CDG?
Symptoms of CDG in infancy and childhood may include:
- low muscle tone or floppiness (hypotonia)
- poor growth, failure to thrive.
- developmental delays.
- liver disease (hepatopathy) with elevated liver enzymes.
- abnormal bleeding or blood clotting.
- misaligned or crossed eyes (strabismus)
- seizures.
- stroke-like episodes.
What is a CDG test?
This testing is used to screen patients for suspected congenital disorders of glycosylation (N- and O-glycosylation defects as well as glycan structure analysis). Congenital disorders of glycosylation (CDG) encompass over 150 genetic conditions spanning a broad clinical spectrum.
What causes CDG disease?
As discussed above, CDG are caused by a deficiency or lack of specific enzymes or other proteins involved in the formation of sugar trees (glycans) and their binding to other proteins or lipids (glycosylation). Glycosylation is an extensive and complex process that modifies 1000’s of proteins.
What is CDG mental illness?
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.
What does CDG mean mental health?
Congenital Disorders of Glycosylation (CDG) Clinic.
How long do babies with CDG live?
What is the prognosis for a person with Congenital Disorder of Glycosylation Type Ia? Twenty percent of people with CDG-Ia die within the first year of life, often due to infection, liver problems, or heart disease. Others with CDG-Ia may live into adulthood. Most are wheelchair bound throughout their life.
How many types of CDG are there?
More than 130 different forms of CDG have been identified in the ensuing years. Recently, Jaeken and colleagues proposed a classification system that names each type by the official abbreviation of the abnormal gene followed by a dash and CDG.
How is CDG treated?
Individuals with PGM1-CDG can be treated with D-galactose supplementation, which is usually well tolerated and associated with decreased bleeding, improvement of laboratory markers and increased quality of life in some patients. Larger trials are underway.
What is glycoprotein syndrome?
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.
What is the illness CDG?
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.