Congenital disorder of glycosylation

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Congenital disorder of glycosylation Classification and external resources
OMIM	212065 212066
DiseasesDB	2012 31730

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A congenital disorder of glycosylation is one of several rare inborn errors of metabolism in which N-glycosylation of a variety of tissue proteins is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants. They were discovered in the late 1990s. Delineation of types and manifestations has been expanding rapidly, with several new forms described each year since then.^[1]

CDG are classified as CDG types I and II (CDG-I and CDG-II), depending on the nature and location of the biochemical defect in the metabolic pathway relative to the action of oligosaccharyltransferase. Type I disorders involve disrupted synthesis of the lipid-linked oligosaccharide precursor, while type II disorders involve malfunctioning trimming/processing of the protein-bound oligosaccharide chain. Currently, twelve CDG type-I variants have been identified (CDG-Ia to -Il) and six variants of CDG Type-II have been described (CDG-IIa to -IIe).

The specific problems produced differ according to the particular abnormal synthesis involved. Common manifestations include ataxia; seizures; retinopathy; liver fibrosis; coagulopathies; failure to thrive; dysmorphic features (e.g., inverted nipples and subcutaneous fat pads; and strabismus.

Ocular abnormalities of CDG-Ia include: myopia, infantile esotropia, delayed visual maturation, low vision, optic pallor, and reduced rod function on electroretinography (Oph Genetics 24:81-88, 2003).

Three subtypes of CDG I (a,b,d) can cause congenital hyperinsulinism with hyperinsulinemic hypoglycemia in infancy.^[1]

No treatment is available for most of these disorders. Mannose supplementation has produced some benefits in a couple of the Type I subtypes. Several synthetic glycoconjugate compounds have been synthesized and are being tested for therapeutic efficacy.

For a thorough scientific overview of defects of N-glycan synthesis, one can consult chapter 74 of OMMBID^[1].

See also

Inborn error of metabolism

External links

References

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Articles on Congenital disorder of glycosylation	Most recent articles on Congenital disorder of glycosylation • Most cited articles on Congenital disorder of glycosylation • Review articles on Congenital disorder of glycosylation • Articles on Congenital disorder of glycosylation in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Congenital disorder of glycosylation	Powerpoint slides on Congenital disorder of glycosylation • Images of Congenital disorder of glycosylation • Photos of Congenital disorder of glycosylation • Podcasts & MP3s on Congenital disorder of glycosylation • Videos on Congenital disorder of glycosylation
Evidence Based Medicine Regarding Congenital disorder of glycosylation	Cochrane Collaboration on Congenital disorder of glycosylation • Bandolier on Congenital disorder of glycosylation • TRIP on Congenital disorder of glycosylation
Cost Effectiveness of Congenital disorder of glycosylation	Cost Effectiveness of Congenital disorder of glycosylation
Clinical Trials Involving Congenital disorder of glycosylation	Ongoing Trials on Congenital disorder of glycosylation at Clinical Trials.gov • Trial results on Congenital disorder of glycosylation • Clinical Trials on Congenital disorder of glycosylation at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Congenital disorder of glycosylation	US National Guidelines Clearinghouse on Congenital disorder of glycosylation • NICE Guidance on Congenital disorder of glycosylation • NHS PRODIGY Guidance • FDA on Congenital disorder of glycosylation • CDC on Congenital disorder of glycosylation
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Commentary on Congenital disorder of glycosylation	Blogs on Congenital disorder of glycosylation
Patient Resources on Congenital disorder of glycosylation	Patient resources on Congenital disorder of glycosylation • Discussion groups on Congenital disorder of glycosylation • Patient Handouts on Congenital disorder of glycosylation • Directions to Hospitals Treating Congenital disorder of glycosylation • Risk calculators and risk factors for Congenital disorder of glycosylation
Healthcare Provider Resources on Congenital disorder of glycosylation	Symptoms of Congenital disorder of glycosylation • Causes & Risk Factors for Congenital disorder of glycosylation • Diagnostic studies for Congenital disorder of glycosylation • Treatment of Congenital disorder of glycosylation
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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .