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Gewählte Publikation:

Glössl, J; Kresse, H; Mendla, K; Cantz, M; Rosenkranz, W.
Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A.
Pediatr Res. 1984; 18(3):302-305 (- Case Report)
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Abstract:
A deficiency of glycoprotein neuraminidase (sialidase, acylneuraminyl hydrolase, EC 3.2.1.18) activity was found in fibroblasts from a patient with the clinical symptoms of Morquio disease type A (mucopolysaccharidosis IV A). Residual neuraminidase activity was about 5% of the mean normal activity. N-Acetylgalactosamine-6-sulfate (GalNAc-6-S) sulfatase activity was reduced to less than 1% of normal with a pH-optimum of 3.0 as expected for the severe form of Morquio disease. In peripheral leucocytes of the patient, however, neuraminidase activity but not Ga1NAc-6-S sulfatase activity was in the normal range. Mixing experiments excluded the presence of excessive amounts of inhibitors of neuraminidase activity.
Find related publications in this database (using NLM MeSH Indexing)
Child -
Chondroitinsulfatases - deficiency
Female - deficiency
Fibroblasts - enzymology
Humans - enzymology
Leukocytes - enzymology
Male - enzymology
Mucopolysaccharidosis IV - enzymology
Neuraminidase - deficiency

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