CDG-x

Common Name(s)

CDG-x, Congenital disorder of glycosylation type I/IIX

Congenital disorder of glycosylation type I/IIX (CDG-x) is a part of a group of rare inherited conditions that are present at birth (congenital) and involve errors in the glycosylation pathway. The term CDG-x is an umbrella term that may refer to any Congenital Disorder of Glycosylation (CDG) that has not yet been specifically diagnosed, but presents symptoms similar to those of other CDGs. The CDG are typically categorized as either type 1 or type 2 based on where in the glycosylation pathway the defect occurs. Glycosylation involves the joining of sugars and proteins (to form glycoproteins) by enzymes (proteins that function to convert specific substances in the body) in the cells of our bodies. These sugars (glycans) must be properly attached to specific proteins in the cells in order for the cells to function correctly. Due to the many functions of these glycoproteins throughout the body, if an error occurs in one of the many steps of the process, a wide variety of health problems will occur beginning in infancy. Because CDG-x may refer to any number of unidentified CDGs, the symptoms vary greatly. Common symptoms associated with a CDG include psychomotor delays, mental retardation, and distinct physical characteristics that also vary, but may include a small head circumference and eye abnormalities. Symptoms associated with CDG-x may also include seizures and changes in skin pigment, although these were not always reported.

Because CDG-x is not a single condition, treatment options are determined on a case by case basis until the final diagnosis is made. It is estimated that 20% of individuals diagnosed with a CDG have not yet been assigned a type or specific diagnosis. Talk to your doctor or a geneticist if someone in your family has been diagnosed with a CDG.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "CDG-x" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "CDG-x" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "CDG-x" returned 1 free, full-text review articles on human participants. First 3 results:

Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x).
 

Author(s): K Mention, L Michaud, D Dobbelaere, D Guimber, F Gottrand, D Turck

Journal: Arch. Dis. Child. Fetal Neonatal Ed.. 2001 Nov;85(3):F217-9.

 

A case of severe and protracted diarrhoea is reported, which started in the neonatal period and progressively associated with neurological impairment, dysmorphy, hepatosplenomegaly, and hepatic insufficiency, from which the patient died at 2 years of age. Isoelectric focusing of serum ...

Last Updated: 22 Oct 2001

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.