Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Groebe, H; Krins, M; Schmidberger, H; von Figura, K; Harzer, K; Kresse, H; Paschke, E; Sewell, A; Ullrich, K.
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.
AMER J HUM GENET. 1980; 32(2): 258-272.
(- Case Report)
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- Co-Autor*innen der Med Uni Graz
- Paschke Eduard
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- Abstract:
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Child -
- Chondroitinsulfatases - metabolism
- Fibroblasts - enzymology
- Glycosaminoglycans - urine
- Heterozygote - urine
- Homozygote - urine
- Humans - urine
- Kinetics - urine
- Lactose Intolerance - urine
- Leukocytes - enzymology
- Lysosomes - enzymology
- Male - enzymology
- Mucopolysaccharidosis IV - enzymology
- Substrate Specificity - enzymology
- beta-Galactosidase - metabolism