Problem
Mannosidosis
Nature:
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.
Broader Problems:
Congenital oligosaccharide disorders Problem Type:
G: Very specific problems Date of last update
04.10.2020 – 22:48 CEST