title: Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part I: Clinical and biochemical findings.
abstract: Clinical heterogeneity in MPS IV A (Mucopolysaccharidosis IV A, Morquio Disease Type A)has become more clearly identified in recent years. The clinical findings in 12 cases of MPS IV A are described. Clinical presentation was variable, and some cases were only mildly affected. All showed deficiency of N-acetylgalactosamine-6-sulphate sulphatase in fibroblasts, but the patient with the mildest clinical presentation showed a high residual enzyme activity. The urinary glycosaminoglycans (GAGs) were examined on all patients by a two-dimensional electrophoresis technique which proved to be highly reliable and efficient. In particular, no false negative results were obtained, a problem often encountered with routine screening methods. These cases support the division of MPS IV A into three subgroups: the severe "classical" type, an intermediate type and a mild type, all caused by N-acetylgalactosamine-6-sulphate sulphatase deficiency. Residual enzyme activity may be an important prognostic indicator.
mesh_terms: D000293:Adolescent; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D005260:Female; D014644:Genetic Variation; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007223:Infant; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000145:classification / Q000235:genetics* / Q000378:metabolism; D013131:Spine / Q000002:abnormalities; D013429:Sulfatases / Q000172:deficiency; D001616:beta-Galactosidase / Q000172:deficiency
chemical_list: D006025:Glycosaminoglycans; D013429:Sulfatases; C018719:N-acetylglucosamine-6-sulfatase; D001616:beta-Galactosidase