Linked Life Data

mannosidase deficiency

Source:http://linkedlifedata.com/resource/umls/id/C1257960

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CSP: lysosomal storage disease due to defective alpha-mannosidase with resultant oligosaccharide accumulation.,NCI: A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clincal signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections.,MSH: Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme.
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