Disease relevance of Carbohydrate-Deficient Glycoprotein Syndrome

• Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome [1].
• Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix [2].
• The carbohydrate-deficient glycoprotein syndrome may be an important and easily identifiable cause of failure to thrive and neurologic dysfunction in infancy [3].
• Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli [4].
• Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I [5].

High impact information on Carbohydrate-Deficient Glycoprotein Syndrome

• Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndromes, lead to diseases with variable clinical pictures [6].
• Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy [7].
• The carbohydrate-deficient glycoprotein syndrome (CDGS) is a developmental disease associated with an abnormally high isoelectric point of serum transferrin [8].
• Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase [9].
• Type IV of the carbohydrate deficient glycoprotein syndromes (CDGS) is characterized by microcephaly, severe epilepsy, minimal psychomotor development and partial deficiency of sialic acids in serum glycoproteins [9].

Chemical compound and disease context of Carbohydrate-Deficient Glycoprotein Syndrome

• A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide [10].
• A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi [11].
• Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I [12].
• Major defect of carbohydrate-deficient-glycoprotein syndrome is not found in the synthesis of dolichyl phosphate or N-acetylglucosaminyl-pyrophosphoryl-dolichol [13].
• Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency [14].

Biological context of Carbohydrate-Deficient Glycoprotein Syndrome

• We have identified the PMM2 genotypes of 22 unrelated Danish patients with carbohydrate-deficient glycoprotein syndrome type 1A: R141H/F119L (18), R141H/C192G (1), F119L/F119L (1), F119L/G117R (1) and D223E/T237R (1) [4].
• Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence [15].
• We have analyzed a series of polymorphic markers on chromosome 16p13 in 17 families with carbohydrate-deficient glycoprotein syndrome type I (CDG1) [16].
• Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1 [17].
• Decreased blood coagulation activities in carbohydrate-deficient glycoprotein syndrome [18].

Anatomical context of Carbohydrate-Deficient Glycoprotein Syndrome

• We have reported deficient expression of decorin on skin fibroblasts from a patient with carbohydrate-deficient glycoprotein syndrome type I [Gu, J. and Wada, Y. (1995) J. Biochem. 117, 1276-1279] [19].

Gene context of Carbohydrate-Deficient Glycoprotein Syndrome

• A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic [20].
• Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development [21].
• Mutations in the PMM2 gene are responsible for the most common form of carbohydrate-deficient glycoprotein syndrome [Matthijs, Schollen, Pardon, Veiga-da-Cunha, Jaeken, Cassiman and Van Schaftingen (1997) Nat. Genet. 19, 88-92] [22].
• The search for the carbohydrate-deficient glycoprotein syndrome type I (CDG1) gene has revealed the existence of a family of phosphomannomutase (PMM) genes in humans [23].
• Recently, an autosomal recessive human disease, Carbohydrate-deficient glycoprotein syndrome type I (CDGS-I) has been correlated with severely reduced PMM activity [24].

Analytical, diagnostic and therapeutic context of Carbohydrate-Deficient Glycoprotein Syndrome

• Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome [25].
• This study demonstrates that capillary zone electrophoresis can be used to resolve quantitatively both sialylated and neutral complex type glycoforms, suggesting a rapid diagnostic test for the carbohydrate deficient glycoprotein syndromes group of diseases [26].
• Anion-exchange chromatography versus isoelectric focusing of transferrin in diagnosing the carbohydrate-deficient glycoprotein syndrome [27].

References