Mannosidosis

Mannosidosis
Electron micrograph of a vacuolated lymphocyte from a mannosidosis patient (A) as compared to a lymphocyte from a normal control (B).
SpecialtyPediatrics, endocrinology 

Mannosidosis is a deficiency in mannosidase, an enzyme. 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 in the neural tissue and organ tissue. Both alpha- and beta-mannosidosis are known to result from autosomal recessive genetic mutations.

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