A New Variant of Mannosidosis with Increased Residual Enzymatic Activity and Mild Clinical Manifestation View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1978-10

AUTHORS

Gideon Bach, Gertrude Kohn, Eli E Lasch, M El Massri, Asher Ornoy, Eliezer Sekeles, Cyril Legum, Maimon M Cohen

ABSTRACT

A partial deficiency of alpha-mannosidase was found in cultured skin fibroblasts, serum, and extracts of leukoytes in two siblings with mild mental retardation, delayed speech, a suggestion of coarse or full facies, and limited mobility of the large joints. All other lysosomal enzymes tested were within the normal range. Their father demonstrated intermediate alpha-mannosidase activity. The addition of 2 mM Zn++ caused a 40% increase of the alpha-mannosidase activity in cell extracts of both patients and control subjects. pH profiles and Cellogel electrophoresis of the patients' cells indicated 20% residual activity of the acidic alpha-mannosidase isoenzyme (pH optimum at 4.0), whereas the activity of the isozyme with pH optimum of 6.0 was normal. Increasing substrate concentration (1--10 mM) demonstrated a 4 to 5-fold increase in the apparent Km of the acidic alpha-mannosidase in the patients' fibroblasts. This residual activity, however, was apparently not sufficient for the normal catabolism of mannose-containing molecules, since electron microscopic examination of the cultured fibroblasts demonstrated numerous lysosomal storage bodies. More... »

PAGES

1010

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-197810000-00012

DOI

http://dx.doi.org/10.1203/00006450-197810000-00012

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1049863596

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/724292


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