Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.

  title={Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.},
  author={Bengt A Hagberg and G{\"o}sta Blennow and Bengt Kristiansson and Helena Stibler},
  journal={Pediatric neurology},
  volume={9 4},
A new group of metabolic disorders, the carbohydrate-deficient glycoprotein (CDG) syndromes, is reviewed with emphasis on the key condition, the CDG syndrome type I. This disease, an autosomal-recessive multisystem condition, has now been diagnosed in 45 Scandinavian patients. It is characterized by carbohydrate deficiencies of a number of glycoproteins, including uniform changes in transferrin. The transferrin alterations provide a distinct biologic marker and a practical and simple laboratory… CONTINUE READING