LSDDB

β-Mannosidosis

β-Mannosidosis: This disorder is caused due to the deficiency of enzyme β-mannosidase. The enzyme breaks the β (1-4) bonds of mannose sugars present in glycoproteins (Broomfield et al., 2013). The disease is characterized by accumulation of various oligosaccharides having Mannose β (1-4) or other oligosaccharides that are more complex and finally are excreted in urine (Michalski and Klein, 1999).

Reference :
Broomfield, A. et al. (2013) ‘A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus’, JIMD Reports, 11, pp. 93–97. doi: 10.1007/8904_2013_227.
Michalski, J.-C. and Klein, A. (1999) ‘Glycoprotein lysosomal storage disorders: α- and β-mannosidosis, fucosidosis and α-N-acetylgalactosaminidase deficiency’, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1455(2), pp. 69–84. doi: 10.1016/S0925-4439(99)00077-0.