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.
References
1.
BhavanandenV. P.MeyerK. (1968). Studies on keratosulphates: methylation, desulfation, and acid hydrolysis studies on old human rib cartilage keratosulfate. Journal of Biological Chemistry, 243, 1052–1059.
2.
HumbelR.ChamolesN. A. (1972). Sequential thin layer chromatography of urinary acid glycosaminoglycans. Clinica Chimica Acta, 40, 290–293.
3.
KaplanD.McKusickV.TrebachS.LazarusR. (1968). Keratosulfate-chondroitin sulfate peptide from normal urine and from urine of patients with Morquio syndrome (mucopolysaccharidosis IV). Journal of Biological Chemistry, 71, 48–55.
4.
KimH. J.BeratisN. G.BrillP.RaabE.HirschornK.MatalonR. (1975). Kniest syndrome with dominant inheritance and mucopolysacchariduria. American Journal of Human Genetics, 27, 755–764.
5.
MarotauxP.LamyM. (1967). Studying the mucopolysaccharides. Lancet, 2, 510.
6.
McKusickV. A. (1978). Mendelian Inheritance in Man, 5th edition. John Hopkins University Press, Baltimore, Md, USA.
7.
PennockC. A. (1976). A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses. Journal of Clinical Pathology, 29, 111–123.
8.
RobertsonW. V.HarveyJ. (1972). The determination of galactose in urinary acidic glycosaminoglycans as a measure of keratan sulfate-like substances in urine. Biochemical Medicine, 6, 246–256.
9.
RomanoC.SiettiC. (1967). Studying the mucopolysaccharidoses. Lancet, 2, 210.
10.
SenoN.MeyerK.AndersonB.HoffmanP. (1965). Variations in keratosulphatcs. Journal of Biological Chemistry, 240, 1005–1010.
11.
SiggersD. C.RimoinD. L.DorstJ. P.DotyS. B.WilliamsB. R.HollisterD. W.SilberbergR.CranleyR. E.KaufmannR. L.McKusickV. A. (1974). The Kniest syndrome. In Birth Defects, Original Articles Series, National Foundation—March of Dimes, 10 (9), 193–208.
