Structured Summary
Abstract
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.
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Synonyms
10 entry terms
- Lysosomal beta A Mannosidosis
- Lysosomal beta-Mannosidase Deficiency
- Mannosidosis, beta A, Lysosomal
- beta-Mannosidase Deficiency
- Lysosomal beta Mannosidase Deficiency
- Lysosomal beta-Mannosidase Deficiencies
- beta Mannosidase Deficiency
- beta Mannosidosis
- beta-Mannosidase Deficiencies
- beta-Mannosidoses
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
2004
MeSH Record
Previous Indexing
- Mannosidase Deficiency Diseases (1984-2003)
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AMA Style
References
- National Library of Medicine. beta-Mannosidosis. Medical Subject Headings (MeSH). 2026. Unique ID D044905. http://id.nlm.nih.gov/mesh/2026/D044905
- beta-Mannosidosis. In: Wikipedia. https://en.wikipedia.org/wiki/Beta-mannosidosis
- beta-Mannosidosis. In: Wikidata. https://www.wikidata.org/wiki/Q291617