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beta-Mannosidosis

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Definition: 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 itself with variety of symptoms that depend upon the type of gene mutation.     
See Also beta-Mannosidase
Other names beta-Mannosidoses; beta-Mannosidase Deficiencies; beta Mannosidosis; beta Mannosidase Deficiency; Deficiency, beta-Mannosidase; beta-Mannosidase Deficiency; Mannosidosis, beta A, Lysosomal
 
SubstanceCAS Registry & nameCategoriesSource
Lysosomal beta-mannosidase deficiency  0   *beta-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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