Disease relevance of Mannosidase Deficiency Diseases

• A case of autoimmune pancytopenia is described in a patient with mannosidosis who developed anti-platelet and anti-neutrophil antibodies and a low haptoglobin level [1].
• Excessive gingival hyperplasia with storage of mannose-rich oligosaccharides appears to be a unique feature present in a 31-year-old mannosidosis patient [2].
• Fibroblasts from patients with mannosidosis, the lysosomal storage disease resulting from an inherited deficiency of lysosomal alpha-D-mannosidase (EC 3.2.1.24), accumulate specific mannose-containing oligosaccharides which are characteristic of the disease (1,2) [3].
• Fibroblasts from patients with mannosidosis and fucosidosis contained 7-fold normal amounts of mannose and 11-fold normal amounts of fucose, respectively [4].

High impact information on Mannosidase Deficiency Diseases

• Patients with mannosidosis, an inherited deficiency of lysosomal alpha-mannosidase, accumulate large amounts of mannose-rich oligosaccharides (the "core" of the carbohydrate units of many glocoproteins) in brain and liver and excrete these partial degradation products in their urine [5].
• Letter: Mannosidosis and maternal penicillamine therapy [6].
• Fibroblasts from patients with mannosidosis, cultured in medium supplemented with fetal calf serum from which acidic alpha-mannosidase (alpha-D-mannoside mannohydrolase, E.C.3.2.1.24) has been removed, secreted a normal amount of apparently unaffected acidic alpha-mannosidase into fetal calf serum-free medium [7].
• Human mannosidosis, an inherited glycoprotein storage disorder, has been associated with severe deficiency of both lysosomal alpha-mannosidase B molecular forms [8].
• Animal model of human disease. Mannosidosis. Swainsonine-induced mannosidosis [9].

Chemical compound and disease context of Mannosidase Deficiency Diseases

• The structures of the digestion intermediates are compared with the published structures of the storage products in mannosidosis and of intact asparagine-linked glycans [10].
• O-alpha-D-Mannopyranosyl-(1----6)-O-beta-D-mannopyranosyl-(1----4)-O-(2- acetamido-2-deoxy-beta-D-glucopyranosyl)-(1----4)-2-acetamido-2-deoxy- D-glucopyranose was isolated from bovine or ovine mannosidosis urine [11].
• Use of EDTA blood samples for mannosidosis testing [12].
• Mannose and glucosamine-containing oligosaccharides were extracted from tissues of variously aged calves with mannosidosis [13].
• Skin fibroblasts from healthy individuals and a mannosidosis patient were cultured in the presence of [2-3H] mannose and the cell homogenates were fractionated by trichloroacetic acid precipitation into a precipitable and a non-precipitable portion [14].

Anatomical context of Mannosidase Deficiency Diseases

• The pattern of staining, analyzed in Purkinje cells and acinar pancreatic cells coincides with results reported for both swainsonine toxicosis and inherited mannosidosis [15].

Gene context of Mannosidase Deficiency Diseases

• Heterogeneity of urinary oligosaccharides from mannosidosis: mass spectrometric analysis of permethylated Man9, Man8, and Man7 derivatives [16].

References