Inborn errors of glycosylation or other specified protein modification
Definition
Carbohydrate-deficient glycoprotein (CDG) syndromes are a group of glycoprotein synthesis disorders characterized by neurological manifestations that can be associated with multivisceral involvement. The frequency is estimated to be between 1/50,000 and 1/100,000. The CDG syndromes are associated with different enzymatic deficits of which the most common, CDG Ia, results from a deficit in phosphomannomutase and represents 70% of CDG cases. Psychomotor retardation is the most constant sign. Other more variable signs include lipocutaneous abnormalities (peau d'orange), olivopontocerebellar atrophy, skeletal anomalies, inverted nipples, coagulation disorders, and hepatic cytolysis and fibrosis. The biological diagnosis is based on the demonstration of abnormal glycosylation of serum glycoproteins, measurement of leukocyte enzyme activities and the search for mutations in the corresponding genes. Prenatal diagnosis of CDG syndrome is feasible once the diagnosis has been confirmed in an index case.
5 subordinate codes
Nearby in Inborn errors of metabolism
5C50Inborn errors of amino acid or other organic acid metabolism5C51Inborn errors of carbohydrate metabolism5C52Inborn errors of lipid metabolism5C53Inborn errors of energy metabolism5C55Inborn errors of purine, pyrimidine or nucleotide metabolism5C56Lysosomal diseases5C57Peroxisomal diseases5C58Inborn errors of porphyrin or heme metabolism