β-Galactosidase-neuraminidase deficiency in adults: Deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1981-10

AUTHORS

Yoshiyuki Suzuki, Hitoshi Sakuraba, Michel Potier, Masao Akagi, Masao Sakai, Hirokuni Beppu

ABSTRACT

4-methylumbelliferyl neuraminidase activity was studied in fibroblasts, leukocytes, and frozen tissues from adult patients with beta-galactosidase-neuraminidase deficiency and specific clinical manifestations. This enzyme was almost completely deficient in fibroblasts, but the residual activity was relatively high (20% of the control mean) in the leukocytes from the patients. The frozen liver from one patient showed the enzyme activity as high as controls. This enzyme consisted of two components, freeze-labile and freeze-stable, and it was demonstrated that only the labile enzyme was deficient in fibroblasts and leukocytes. The apparently normal activity of neuraminidase in frozen autopsy tissues of a patient may be explained by the loss of the labile component in control tissues after a long-term freezing. The neuraminidase activity was variable in parents and no definite conclusion was drawn on the hereditary nature of the disease. More... »

PAGES

387-389

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00282820

DOI

http://dx.doi.org/10.1007/bf00282820

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1011964895

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7327559


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