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Alpha-Mannosidosis, Type I

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.