alpha-Mannosidosis D008363

Description

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.   MeSH

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Phase 3 Indicated Drugs (1)

Phase 1 Indicated Drugs (1)


Organization Involved with Phase 2 Indications (4)

Organization Involved with Phase 1 Indications (1)

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