MORQUIO SYNDROME (MUCOPOLYSACCHARIDOSIS-IV-B) ASSOCIATED WITH BETA-GALACTOSIDASE DEFICIENCY - REPORT OF 2 CASES
- 1 January 1980
- journal article
- research article
- Vol. 32 (2) , 258-272
Abstract
Two male patients, aged 6 and 25 yr, both with normal intelligence and absence of neurological abnormalities, exhibited dysostosis multiplex, dwarfism, odontoid anomalies, cloudy corneas, excessive 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.-galactoside, the mutant enzyme behaved as a Km variant.This publication has 25 references indexed in Scilit:
- The enzymic defect in Morquio's disease: The specificity of N-acetylhexosamine sulfatasesBiochemical and Biophysical Research Communications, 1978
- Morquio‐like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IVBAmerican Journal of Medical Genetics, 1977
- Beta galactosidase and the Morquio syndromeAmerican Journal of Medical Genetics, 1977
- Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β‐galactosidase deficiencyClinical Genetics, 1976
- N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease.Journal of Clinical Investigation, 1976
- The existence of a second route for the transfer of certain glycoproteins from the circulation into the liverBiochemical and Biophysical Research Communications, 1976
- Morquio's syndrome: Deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfataseBiochemical and Biophysical Research Communications, 1974
- The electrophoretic separation of human β-galactosidases on cellulose acetateBiochemical Medicine, 1971
- Generalized Gangliosidosis: Beta-Galactosidase DeficiencyScience, 1968
- Chromatographische Untersuchungen über die Mucopolysaccharidverteilung im hyalinen KnorpelHoppe-Seyler´s Zeitschrift Für Physiologische Chemie, 1964