CDG-syndrome, or Congenital Disorders of Glycosylation is an autosomal recessive, inherited metabolic disorder, affecting all parts of the body.The degree of impairment varies, but most patients have muscle weakness and neonatal muscle hypotonia. The cerebellum is often hypoplastic. A varying degree of mental retardation and reduced visual ability are seen in many patients. The basic biochemical error involves a disturbance in the ability of the cells to produce complete carbohydrate chains (sugar) of glycoproteins. The diagnosis is based on a number of unusual symptoms (e.g.: inverted breast nipples, the presence of characteristic fat pads on the buttocks, arachnodactyly, hyperlaxity of the joints, hypotonia, failure to thrive, diarrhea and bilateral squint), the presence of a special biochemical marker in the blood- (carbohydrate deficient forms of a protein which is normally glycosylated; e.g. transferrin) – and measuring the decreased enzyme activity in blood or fibroblast cells.

R.A. Wevers (Ron), M.D., Ph.D., Professor of Biochemics
D.J. Lefeber (Dirk), M.Sc. Ph.D., Biochemistry
E. Morava (Eva), M.D., Ph.D., Pediatrician

CDG-syndrome is an autosomal recessive, inherited metabolic disorder, affecting all parts of the body. Most patients have muscle weakness, neonatal muscle hypotonia. In additionm the small brain (cerebellum) is underdeveloped in many forms of the disease, altering the normal Read more

Analysis of the presence of a special biochemical marker in the blood- (carbohydrate deficient forms of a protein which is normally glycosylated; e.g. transferrin) – and measuring the decreased enzyme activity in blood or fibroblast cells are additional diagnostic tests that have to be performed in order to confirm (or exclude) the diagnosis. Prenatal diagnosis is only reliable in patients with a known mutation through mutation analysis.