Mannosidosis

Mannosidosis is caused by a lack of either alpha- or beta-mannosidase that results in the accumulation of mannose-rich oligosaccharide sugar chains. The alpha and beta forms of Mannosidosis occur on separate gene locations but have similar effects. Both diseases are heterogeneous, meaning that symptoms vary greatly between those afflicted.
 
Alpha-Mannosidosis is characterized by coarse facial features, mental retardation, hearing and language problems, immune deficiency and muscular and skeletal abnormalities. Like other Lysosomal Storage Diseases, alpha-Mannosidosis is progressive but some research has shown that symptoms are stabilized in the second decade of life, and it is common for those afflicted to live into adulthood. Individuals with beta-Mannosidosis do not typically exhibit the characteristics common to LSDs such as coarse facial features, corneal and skeletal changes and enlarged organs. Rather, the beta form usually presents with mental retardation, recurrent infections and hearing loss, similar to the alpha form but less severe. As with the alpha form, patients generally live into adulthood.