• An autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzyme beta-mannosidase. It is caused by mutations in the MANBA gene. Common features of this disorder are mental retardation, developmental delays and recurrent respiratory infections.
  NCI
  U.S. National Cancer Institute, 2021
• An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests in the form of a variety of symptoms that depend upon the type of gene mutation.
  NLM Medical Subject Headings
  U.S. National Library of Medicine, 2025
• Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. (Orphanet #118)
  NIH Genetic and Rare Diseases
  National Center for Advancing Translational Sciences