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beta-Mannosidosis MeSH Descriptor Data 2022


MeSH Heading
beta-Mannosidosis
Tree Number(s)
C16.320.565.202.607.750
C16.320.565.595.577.750
C18.452.648.202.607.750
C18.452.648.595.577.750
Unique ID
D044905
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D044905
Scope Note
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.
Entry Term(s)
Lysosomal beta A Mannosidosis
Lysosomal beta-Mannosidase Deficiency
Mannosidosis, beta A, Lysosomal
beta-Mannosidase Deficiency
Previous Indexing
Mannosidase Deficiency Diseases (1984-2003)
See Also
beta-Mannosidase
Public MeSH Note
2004
History Note
2004
Date Established
2004/01/01
Date of Entry
2003/07/09
Revision Date
2018/11/02
beta-Mannosidosis Preferred
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