Abnormal keratan sulphate excretion.
Simple methods for the detection of keratan sulphate in urine have been applied to over 300 urine samples collected from children and adults with bone and cartilage dysplasias with or without mental retardation. Abnormal keratan sulphate excretion, which is a feature of type IV mucopolysaccharidosis (Morquio syndrome), is found in patients with that condition only during childhood. Abnormal excretion is also a feature of Kniest dysplasia and GM1 gangliosidosis and may be present in a number of other bone and cartilage dysplasias of unknown aetiology.
D000293:Adolescent; D000328:Adult; D001847:Bone Diseases / Q000175:diagnosis / Q000652:urine; D002648:Child; D002675:Child, Preschool; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine*; D006801:Humans; D007223:Infant; D007632:Keratan Sulfate / Q000652:urine*; D008297:Male; D008875:Middle Aged; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis* / Q000652:urine; D013661:Tay-Sachs Disease / Q000175:diagnosis / Q000652:urine
D006025:Glycosaminoglycans; D007632:Keratan Sulfate