Disease relevance of beta-Mannosidosis

• Caprine beta-mannosidosis is an inherited lysosomal storage disease that leads to a deficiency of oligodendrocytes and hypomyelination [1].
• Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency [2].

High impact information on beta-Mannosidosis

• Structural characterization of novel complex oligosaccharides accumulated in the caprine beta-mannosidosis kidney. Occurrence of tetra- and pentasaccharides containing a beta-linked mannose residue at the nonreducing terminus [3].
• Four oligosaccharide fractions were isolated and purified from the kidney of goats affected with beta-mannosidosis by repeating Bio-Gel P-2 column chromatography [3].
• Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase [4].
• beta-Mannosidosis, an inherited defect of glycoprotein catabolism previously identified in goats and humans, has been recently diagnosed in Salers cattle [5].
• Caprine beta-mannosidosis: development of glial and myelin abnormalities in optic nerve and corpus callosum [6].

Chemical compound and disease context of beta-Mannosidosis

• The relative contributions of the lysosomal and extra-lysosomal catabolic pathways can be derived by comparing the ratio of trisaccharide Man beta (1 --> 4)GlcNAc beta (1 --> 4)GlcNAc to disaccharide Man beta (1 --> 4)GlcNAc accumulated in tissues from goats with beta-mannosidosis [7].
• Normal dog, goat, or human spleen contained virtually no triacylglycerol, and of the pathological controls, beta-mannosidosis goat spleen showed no triacylglycerol band at all [8].
• We have now analysed urine from two patients with confirmed beta-mannosidase deficiency and have found Man-beta(1-4)GlcNAc concentrations of 65 and 73 mg/mmol creatinine [9].
• As in caprine beta-mannosidosis, oligosaccharides with terminal beta-mannose residues and cleaved as well as uncleaved chitobiose linkages were identified in bovine beta-mannosidosis kidney [10].
• Cell fusions were performed to investigate the possible involvement of different gene mutations in five patients with isolated beta-mannosidosis and a patient with a combined deficiency of beta-mannosidase and heparin sulphate sulphamidase [11].

Biological context of beta-Mannosidosis

• Together, these characteristics represent a common phenotype which is expressed at birth in caprine beta-mannosidosis [12].
• Caprine beta-mannosidosis, an autosomal recessive disorder of glycoprotein catabolism, as yet undetected in man, was expressed in a 96/150 day gestation goat fetus [13].
• The potential use of these plasma assays was evaluated for heterozygote detection of caprine beta-mannosidosis in populations of control goats and a breeding herd composed of known and putative heterozygotes for beta-mannosidosis [14].

Anatomical context of beta-Mannosidosis

• In caprine beta-mannosidosis, an inherited dysmyelinating disorder, the myelin deficit shows substantial variation throughout the nervous system [6].
• Dysmyelinogenesis in caprine beta-mannosidosis: ultrastructural and morphometric studies in fetal optic nerve [15].
• Central nervous system (CNS) morphological changes were delineated in goats affected with beta-mannosidosis to determine the extent and distribution of lesions associated with this inherited glycoprotein metabolic perturbation [16].
• Caprine beta-mannosidosis is an autosomal recessive defect of glycoprotein catabolism with a deficiency of tissue and plasma beta-mannosidase activity and tissue accumulation of oligosaccharides within lysosomes [17].
• Urinary oligosaccharides were studied in beta-mannosidosis, a newly identified, inherited glycoprotein catabolic disorder associated with severe neonatal neurological deficits, widespread lysosomal storage vacuoles and a deficiency of plasma and tissue beta-mannosidase [18].

Gene context of beta-Mannosidosis

• Lack of beta-mannosidase activity leads to the lysosomal disorder beta-mannosidosis (MIM 248510) [19].

References