Alpha-Mannosidase B Deficiency

Alpha-Mannosidosis, Type I

Deficiencies, Lysosomal alpha-D-Mannosidase

Deficiencies, alpha-Mannosidase

Deficiency, Lysosomal alpha-D-Mannosidase

Deficiency, alpha-Mannosidase

Lysosomal Alpha B Mannosidosis

Lysosomal alpha D Mannosidase Deficiency

Lysosomal alpha-D-Mannosidase Deficiencies

Lysosomal alpha-D-Mannosidase Deficiency

Mannosidosis, alpha B Lysosomal

Mannosidosis, alpha B, Lysosomal

alpha Mannosidase B Deficiency

alpha Mannosidase Deficiency

alpha Mannosidosis

alpha-D-Mannosidase Deficiencies, Lysosomal

alpha-D-Mannosidase Deficiency, Lysosomal

alpha-Mannosidase Deficiencies

alpha-Mannosidase Deficiency


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.