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.
Also Known As:
Alpha-D-Mannosidosis; Alpha-Mannosidase B Deficiency; Alpha-Mannosidosis, Type I; Lysosomal Alpha B Mannosidosis; Lysosomal alpha-D-Mannosidase Deficiency; Mannosidosis, alpha B Lysosomal; alpha Mannosidase B Deficiency; alpha-Mannosidase Deficiency; Deficiencies, Lysosomal alpha-D-Mannosidase; Deficiencies, alpha-Mannosidase; Deficiency, Lysosomal alpha-D-Mannosidase; Deficiency, alpha-Mannosidase; Lysosomal alpha D Mannosidase Deficiency; Lysosomal alpha-D-Mannosidase Deficiencies; alpha Mannosidase Deficiency; alpha Mannosidosis; alpha-D-Mannosidase Deficiencies, Lysosomal; alpha-D-Mannosidase Deficiency, Lysosomal; alpha-Mannosidase Deficiencies; alpha-Mannosidoses; Mannosidosis, alpha B, Lysosomal