alpha-Mannosidosis

**Definition:** 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.

**Tree numbers:** - C16.320.565.202.607.500 - C16.320.565.595.577.500 - C18.452.648.202.607.500 - C18.452.648.595.577.500

**Synonyms:** - alpha Mannosidase B Deficiency - Alpha-Mannosidase B Deficiency - alpha-Mannosidase Deficiency - Alpha-Mannosidosis, Type I - Lysosomal alpha-D-Mannosidase Deficiency - Mannosidosis, alpha B Lysosomal - Mannosidosis, alpha B, Lysosomal - Alpha-D-Mannosidosis - Lysosomal Alpha B Mannosidosis