Tags: Disease.

Beta-mannosidosis also called lysosomal beta-mannosidase deficiency is a disorder of oligosaccharide metabolism caused by decreased activity of the enzyme beta-mannosidase. This enzyme is coded for by the gene MANBA located at 4q22-25. Beta-mannosidosis is inherited in an autosomal recessive manner. Affected individuals appear normal at birth and can have a variable clinical presentation.

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