[The carbohydrate deficient glycoprotein syndrome].
The carbohydrate-deficient glycoprotein syndrome is a newly described hereditary disorder which may be due to a defect in the glycoprotein metabolism. Predominant symptoms are mental retardation, epilepsy, cerebellar ataxia, polyneuropathy, squint, retinitis pigmentosa, retarded growth, hypothyroidism and liver steatosis. Increased serum glycoprotein-deficient transferrin is a marker of the disease and confirms the diagnosis. We describe four Norwegian children with this syndrome. Olivopontocerebellar degeneration was found upon examination of the brain in two patients who died.
Strømme
P
P
Senter for mental retardasjon, Rikshospitalet, Oslo.
Maehlen
J
J
Strøm
E H
EH
Torvik
A
A
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000378:metabolism; D015415:Biomarkers / Q000097:blood; D001921:Brain / Q000473:pathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006023:Glycoproteins / Q000378:metabolism*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000378:metabolism; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis / Q000378:metabolism; D013577:Syndrome; D014168:Transferrin / Q000378:metabolism
D015415:Biomarkers; D006023:Glycoproteins; D014168:Transferrin
Karbohydratdefekt glykoprotein-syndrom.