Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation.

The carbohydrate-deficient glycoprotein (CDG) syndromes (CDGS) are a series of autosomal recessive enzyme deficiencies which result in incomplete glycosylation of plasma proteins. CDGS types Ia and Ib have been related to deficiencies of phosphomannomutase and phosphomannose isomerase, respectively, while CDGS type II results from a deficiency of N-acetylglucosaminyltransferase II. Secondary CDG syndromes are associated with galactosaemia and hereditary fructose intolerance. The diagnosis of CDGS is most easily made by studying the glycoforms of suitable marker proteins using either electrophoresis or isoelectric focusing. This paper reviews the structure of the glycan chains of proteins and structural alterations in CDGS. It also outlines analytical techniques which are useful in the laboratory study of protein glycoforms and the diagnosis of CDGS.