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alpha-Mannosidosis

More information in Books or onNLM PubMed
Definition: 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.     
See Also alpha-Mannosidase
Other names Mannosidosis, alpha B, Lysosomal; alpha-Mannosidoses; alpha-Mannosidase Deficiencies; alpha-D-Mannosidase Deficiency, Lysosomal; alpha-D-Mannosidase Deficiencies, Lysosomal; alpha Mannosidosis; alpha Mannosidase Deficiency; Lysosomal alpha-D-Mannosidase Deficiencies; Lysosomal alpha D Mannosidase Deficiency; Deficiency, alpha-Mannosidase; Deficiency, Lysosomal alpha-D-Mannosidase; Deficiencies, alpha-Mannosidase; Deficiencies, Lysosomal alpha-D-Mannosidase; alpha-Mannosidase Deficiency; alpha Mannosidase B Deficiency; Mannosidosis, alpha B Lysosomal; Lysosomal alpha-D-Mannosidase Deficiency
 
SubstanceCAS Registry & nameCategoriesSource
Alpha-mannosidosis, type 2  0   *alpha-Mannosidosis.
Alpha-mannosidosis type 1  0   *alpha-Mannosidosis.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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