Disease Information for Mannosidosis

Inborn error of metabolism marked by a defect in alpha-mannosidase activity that results in lysosomal accumulation of mannose-rich substrates; Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex; It is thought to be an autosomal recessive disorder----------------------------------Alpha-Mannosidosis; Alpha-Mannosidase B Deficiency ; Lysosomal Alpha-D-Mannosidase Deficiency; Mannosidase, Alpha B, Lysosomal Mannosidosis; Mannosidosis, Alpha B, Lysosomal;

Alpha-mannosidosis is one of a group of very rare inherited disorders known as glycoprotein and related storage diseases; These disorders are caused by a defect in the breakdown of complex molecules in the cells, as a result of an enzyme deficiency; The enzyme that is lacking is known as alpha-D-mannosidase; The molecules that are not broken down are stored in the small components within cells known as lysosomes; The approximately 50 diseases in which this occurs are known as lysosomal storage diseases; In addition to alpha mannosidosis and a related disorder, beta mannosidosis, the lysosomal storage disorders include Fabry disease, Gaucher disease, cystinosis, aspartylglycosaminuria, the mucopolysaccharidoses, the mucolipidoses, and others; There are two types of alpha-mannosidosis: type I and type II; Type I is much less common; Its symptoms may begin within the first year of life; Type II, the milder form, may begin during the juvenile or adult years-------------[NORD 2005]-------------

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