alpha-Mannosidosis
An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
Year introduced: 2004(1985)
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Tree Number(s): C16.320.565.202.607.500, C16.320.565.595.577.500, C18.452.648.202.607.500, C18.452.648.595.577.500
MeSH Unique ID: D008363
Entry Terms:
- alpha-Mannosidoses
- alpha Mannosidosis
- alpha Mannosidase B Deficiency
- Alpha-Mannosidase B Deficiency
- alpha-Mannosidase Deficiency
- alpha-Mannosidase Deficiencies
- alpha Mannosidase Deficiency
- Deficiencies, alpha-Mannosidase
- Deficiency, alpha-Mannosidase
- Alpha-Mannosidosis, Type I
- Lysosomal alpha-D-Mannosidase Deficiency
- alpha-D-Mannosidase Deficiencies, Lysosomal
- alpha-D-Mannosidase Deficiency, Lysosomal
- Deficiencies, Lysosomal alpha-D-Mannosidase
- Deficiency, Lysosomal alpha-D-Mannosidase
- Lysosomal alpha-D-Mannosidase Deficiencies
- Lysosomal alpha D Mannosidase Deficiency
- Mannosidosis, alpha B Lysosomal
- Mannosidosis, alpha B, Lysosomal
- Alpha-D-Mannosidosis
- Lysosomal Alpha B Mannosidosis
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