Carbohydrate-deficient glycoprotein syndrome type I

Common Name(s)

Carbohydrate-deficient glycoprotein syndrome type I

Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. These glycoconjugates play critical roles in metabolism, cell recognition and adhesion, cell migration, protease resistance, host defense, and antigenicity, among others. CDGs are divided into 2 main groups: type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs (see, e.g., CDG2A, {212066}) refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. CDG1A is the most common form of CDG and was the first to be characterized at the molecular level (reviews by {36:Marquardt and Denecke, 2003}; {20:Grunewald et al., 2002}). {40:Matthijs et al. (1997)} noted that Jaeken syndrome (CDG1A) is a genetic multisystem disorder characterized by defective glycosylation of glycoconjugates. It usually presents as a severe disorder in the neonatal period. There is a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. There is a 20% lethality in the first year of life due to severe infections, liver insufficiency, or cardiomyopathy. Genetic Heterogeneity of Congenital Disorder of Glycosylation Type I Multiple forms of CDG type I have been identified; see CDG1B ({602579}) through CDG1Y ({300934}). A congenital disorder of deglycosylation (CDDG; {615273}), previously designated CDG1V, is caused by mutation in the NGLY1 gene ({610661}).
 

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