Disease or Syndrome
mannosidosis
Subclass of:
Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases
Definitions related to mannosidase deficiency diseases:
  • (mannosidosis) A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clinical signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections.
    NCI
    U.S. National Cancer Institute, 2021
  • (mannosidosis) Lysosomal storage disease due to defective alpha-mannosidase with resultant oligosaccharide accumulation.
    CRISP Thesaurus
    National Institutes of Health, 2006
  • 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.
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2025
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