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mannosidoses

Tuesday 29 July 2008

Definition: Mannosidoses are autosomal recessive lysosomal storage diseases of glycoprotein catabolism caused by a deficiency of lysosomal alpha-mannosidase activity.

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal alpha-mannosidase activity. The disorder shows a wide range of clinical phenotypes, from a severe infantile form (type I), which is fatal at less than 3 to 8 years of age, to a less severe juvenile- or adult-onset form (type II), which ultimately shows progressive neurologic degeneration.

Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. Most patients have mental retardation.

Types

- alpha-mannosidosis (MIM.248500): mutation in the gene encoding alpha-mannosidase, class 2B1 (MAN2B1) (MIM.609458)

- beta-mannosidosis : mutation in the gene encoding beta-mannosidase (MANBA) (MIM.609489).