What is CDG disorder?
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.
What is CDG life expectancy?
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. There is no curative treatment for PMM2-CDG, treatment focuses on the treatment of symptoms and prevention of complications.
What is CDG disease symptoms?
Depending on the specific type of CDG , common signs and symptoms include:
- Developmental delays.
- Imbalance.
- Muscle weakness.
- Nerve damage.
- Vision issues.
- Gastrointestinal problems.
- Poor growth.
- Liver disease.
How common is Jaeken syndrome?
PMM2-CDG is the most common of a growing family of more than 100 extremely rare inherited metabolic disorders. More than 800 cases of this specific disorder have been reported worldwide. Two other disorders in this family are each represented by more than 20 cases.
Is there a cure for CDG?
There is no known cure for CDG, but treatment is available to manage symptoms and to improve the quality of life for people with the condition. Because there are so many forms of CDG, and because each case presents with different symptoms and different levels of severity, the treatment plan for each child is unique.
What is ALG11 CDG?
Abstract. 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 organelle is affected by CDG?
N- and O-linked forms of CDG affect the trimming or remodeling of sugar building blocks in the Golgi apparatus, a part of the cell that modifies and sorts proteins for secretion.
What is glycosylation type 1a?
Congenital disorder of glycosylation type 1a is an inherited disease characterized by variable developmental delays. and muscle and bone problems that change with age. Individuals with congenital disorder of glycosylation type 1a. have defects in the enzyme phosphomannomutase 2.
What is carbohydrate-deficient 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 CDG personality?
Individuals with CDG have very charming personalities and are generally happy and social. CDG symptoms vary by CDG type even among siblings and have a range of severity even in the same type of CDG that Doctors and Scientists cannot yet explain. Each CDG type can have more or less severe symptoms.
How is the Golgi apparatus affected by CDG?
What organelle is affected by glycosylation?
The Golgi
Highlights. The Golgi is a central organelle for protein trafficking and glycosylation.
When does the diagnosis of CDG Ia change?
Drouin-Garraud et al. (2001) also noted that clinical findings of CDG Ia tend to change with age. During infancy, patients present with severe neurologic involvement with hypotonia, failure to thrive, roving eye movements, and developmental delay.
What is congenital disorder of glycosylation type Ia?
Congenital disorder of glycosylation type Ia (CDG-Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with CDG-Ia vary widely among affected individuals, sometimes even among members of the same family.
What are the three types of PMM2-CDG?
PMM2-CDG (CDG-Ia) (previously known as congenital disorder of glycosylation type 1a), the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three types: infantile multisystem, late-infantile and childhood ataxia-intellectual disability, and adult stable disability.
How is hydrops fetalis related to CDG-Ia?
About 20 percent of affected infants do not survive the first year of life due to multiple organ failure. The most severe cases of CDG-Ia are characterized by hydrops fetalis. This condition is caused by mutations in the PMM2 gene and is inherited in an autosomal recessive fashion. [1]