alpha-Mannosidosis
Synonyms
Alpha-D-Mannosidosis
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
alpha-Mannosidoses
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.
See Also