[Carbohydrate-deficient glycoprotein syndrome].
Carbohydrate-deficient glycoprotein syndrome is a recently identified recessively inherited, multisystemic disease with severe nervous system involvement. It is characterized biochemically by carbohydrate-deficient serum glycoproteins. Serum transferrin shows the most pronounced carbohydrate defect, and can be used as a marker of the disease. The patient we present here had many of the characteristic symptoms. She was a girl with psychomotor retardation, and had slightly dysmorphic features. She had convulsive episodes, some hepatopathy and pericardial effusions. CT-scan of the cerebrum showed cortical and central atrophy. The diagnosis was confirmed by the finding of greatly elevated values of carbohydrate-deficient serum transferrin.
Bendiksen
A
A
Odense Universitetshospital, børneafdeling H.
Wulff
K
K
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D006023:Glycoproteins / Q000737:chemistry* / Q000378:metabolism; D006801:Humans; D013577:Syndrome
D006023:Glycoproteins
Kulhydratdeficient glykoproteinsyndrom.