Mannosidosis
Mannosidosis
Medical condition
Mannosidosis is a deficiency in mannosidase, an enzyme.[1] There are two types: alpha-mannosidosis and beta-mannosidosis. Both disorders are related to the lysosome and have similar presentation; the former is caused by defective lysosomal α-mannosidase and the latter by defective lysosomal β-mannosidase. In both cases, the defect causes accumulation of oligosaccharides rich in mannose[2] in the neural tissue and organ tissue.[3] Both alpha- and beta-mannosidosis are known to result from autosomal recessive genetic mutations.[4]