beta-Mannosidosis
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.
Year introduced: 2004
PubMed search builder options
Subheadings:
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
MeSH Unique ID: D044905
Entry Terms:
- beta-Mannosidoses
- beta Mannosidosis
- Lysosomal beta-Mannosidase Deficiency
- Lysosomal beta-Mannosidase Deficiencies
- Lysosomal beta Mannosidase Deficiency
- Mannosidosis, beta A, Lysosomal
- beta-Mannosidase Deficiency
- beta-Mannosidase Deficiencies
- beta Mannosidase Deficiency
- Lysosomal beta A Mannosidosis
Previous Indexing:
See Also: