Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

Two male patients, aged 6 and 25, both with normal intelligence and absence of neurological abnormalities, exhibited dysostosis multiplex, dwarfism, odontoid anomalies, cloudy corneas, exessive excretion of keratan sulfate, and abnormal urinary oligosaccharides. Leukocytes and fibroblasts of both patients were deficient in acid beta-galactosidase (beta-gal) and normal in N-acetylgalactosamine-6-sulfate sulfatase, the deficient enzyme in classical Morquio syndrome. The beta-gal deficiency was not due to an endogenous inhibitor, and the parents exhibited intermediate activities. Deficient beta-gal activity was observed toward p-nitrophenyl-beta-galactoside, 4-methylumbelliferyl-beta-galactoside (4 MU-beta-gal), lactose, GM1 ganglioside, keratan sulfate, and asialofetuin (ASF). Under standard assay conditions, the residual activity was similar for all substrates tested. Toward p-nitrophenyl-beta-glactoside, the mutant enzyme behaved as a Km variant.

[1]  A. Sewell An improved thin-layer chromatographic method for urinary oligosaccharide screening. , 1979, Clinica chimica acta; international journal of clinical chemistry.

[2]  H. Kresse,et al.  A sensitive procedure for the diagnosis of N-acetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio's disease. , 1978, Clinica chimica acta; international journal of clinical chemistry.

[3]  A. Dorfman,et al.  The enzymic defect in Morquio's disease: the specificity of N-acetylhexosamine sulfatases. , 1978, Biochemical and biophysical research communications.

[4]  C. Caskey,et al.  Deficiencies of Glucosamine-6-Sulfate or Galactosamine-6-Sulfate Sulfatases Are Responsible for Different Mucopolysaccharidoses , 1978, Science.

[5]  S. Raghavan,et al.  GM1-ganglioside β-galactosidase in leukocytes and cultured fibroblasts , 1977 .

[6]  K. von Figura,et al.  Characterization of glycosaminoglycans stored in mucopolysaccharidosis III A: evidence for a generally occuring degradation of heparan sulfate by endoglycosidases. , 1977, Hoppe-Seyler's Zeitschrift fur physiologische Chemie.

[7]  R. Stevenson,et al.  Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB. , 1977, American journal of medical genetics.

[8]  J. Spranger Beta galactosidase and the Morquio syndrome. , 1977, American journal of medical genetics.

[9]  J. Leroy,et al.  Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β‐galactosidase deficiency , 1976, Clinical genetics.

[10]  N. Di Ferrante,et al.  N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease. , 1976, The Journal of clinical investigation.

[11]  A. Morell,et al.  The existence of a second route for the transfer of certain glycoproteins from the circulation into the liver. , 1976, Biochemical and biophysical research communications.

[12]  R. Matalon,et al.  Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase. , 1974 .

[13]  R. Matalon,et al.  MORQUIO'S SYNDROME: A DEFICIENCY OF CHONDROITIN SULFATE N-ACETYLHEXOSAMINE SULFATE SULFATASE , 1974, Pediatric Research.

[14]  N. Chamoles,et al.  Sequential thin layer chromatography of urinary acidic glycosaminglycans. , 1972, Clinica chimica acta; international journal of clinical chemistry.

[15]  E. Neufeld,et al.  CORRECTIVE FACTORS FOR INBORN ERRORS OF MUCOPOLYSACCHARIDE METABOLISM , 1971, Annals of the New York Academy of Sciences.

[16]  M. Ho,et al.  Differential effect of chloride ions on -galactosidase isoenzymes: a method for separate assay. , 1971, Clinica chimica acta; international journal of clinical chemistry.

[17]  A. Fluharty,et al.  The electrophoretic separation of human -galactosidases on cellulose acetate. , 1971, Biochemical medicine.

[18]  J. O'brien,et al.  Generalized Gangliosidosis: Beta-Galactosidase Deficiency , 1968, Science.

[19]  T. Yamagata,et al.  Enzymatic methods for the determination of small quantities of isomeric chondroitin sulfates. , 1968, The Journal of biological chemistry.

[20]  J. Pieper,et al.  Kolorimetrische mikromethode zur bestimmung des gesamteiweisses in eiweissarmen flüssigkeiten , 1967 .

[21]  T BITTER,et al.  A modified uronic acid carbazole reaction. , 1962, Analytical biochemistry.

[22]  E. Webb,et al.  Non-Inverted Versus Inverted Plots in Enzyme Kinetics , 1959, Nature.

[23]  N F BOAS,et al.  Method for the determination of hexosamines in tissues. , 1953, The Journal of biological chemistry.