Disease or Syndrome
beta-mannosidosis
Subclass of:
Mannosidase Deficiency Diseases
Definitions related to beta-mannosidosis:
-
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 ThesaurusU.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 HeadingsU.S. National Library of Medicine, 2021
-
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)National Center for Advancing Translational Sciences
Return to OpenMD Medical Dictionary
> B
This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.