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α ‐ and β ‐mannosidoses
Author(s) -
Cooper A.,
Hatton C. E.,
Thornley M.,
Sardharwalla I. B.
Publication year - 1990
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799511
Subject(s) - pathological , mannose , secretion , mannosidase , enzyme , biology , granulocyte , biochemistry , endocrinology , medicine , immunology
Summary Clinical, pathological and biochemical findings in the mannosidoses are described. Family studies showed granulocyte‐rich white cell fractions to be the tissue of choice for carrier detection in β ‐mannosidosis. Metabolic labelling studies using [ 3 H] mannose demonstrated accumulation of Man β 1‐4GlcNAc in cultured skin fibroblasts from a patient with this condition. Alternative methods of egress from lysosomes were suggested for this compound by its secretion into culture medium and apparent reduction of storage with time in cultures. β ‐mannosidase deficient goats are not thought to be a true animal model of the human condition, as although they showed a similar enzyme deficiency, the clinical presentation is much more severe and the major storage material (Man β 1‐4GlcNAc β 1‐4GlcNAc) is different.