Abstract
The Kniest syndrome is an autosomal dominant skeletal dysplasia characterized by dwarfism, dysmorphic facies, short extremities and joint swelling. Increased urinary excretion of keratan sulfate (KS) in this syndrome has recently been discovered. To identify further the KS in the Kniest syndrome, analysis of the purified KS was carried out using gas liquid chromato-graphy (GLC). Mucopolysaccharides from urine of 4 patients with Kniest syndrome were isolated and KS was purified using Dowex-1 ion exchange chromatography. Keratan sulfate fractions were meth-anolyzed at 80° for 18 h. Amino sugars were N-acetylated with trifluoroacetic anhydride, and following silylation the material was analyzed by GLC. The Kniest KS was compared to Morquio KS and also to standard KS isolated from corneas and rib cartilage. The results indicate that the KS from Kniest and Morquio syndrome are identical. Equimolar amounts of galactose and N-acetyl-glucosamine were found, fucose, mannose, N-acetylgalactosamine and sialic acid, which are found in KS, were also present. The chromatograms of standard skeletal KS correspond to KS from these 2 syndromes. Urinary mucopolysaccharides from normal individuals show different chromatograms as do mucopolysaccharides from urine of a patient with Sanfilippo syndrome. These results indicate that GLC can be used to characterize KS in urine of patients with the Kniest syndrome. GLC may be useful for screening of skeletal dysplasias for keratan sulfaturia.
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Nyako, R., Matalon, R., Rimoin, D. et al. 920 GAS LIQUID CHROMATOGRAPHY OF KERATAN SULFATE IN THE KNIEST SYNDROME. Pediatr Res 12 (Suppl 4), 517 (1978). https://doi.org/10.1203/00006450-197804001-00925
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DOI: https://doi.org/10.1203/00006450-197804001-00925