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Dictionary » Alpha-D-mannosidosis


Introduction: Alpha-D-mannosidosis

Description of Alpha-D-mannosidosis

Alpha-D-mannosidosis: An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
Source: Diseases Database

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Source: Diseases Database

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Source: Diseases Database

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