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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mannosidase Deficiency Diseases > alpha-Mannosidosis
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mannosidase Deficiency Diseases > alpha-Mannosidosis
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mannosidase Deficiency Diseases > alpha-Mannosidosis
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mannosidase Deficiency Diseases > alpha-Mannosidosis

Preferred term

alpha-Mannosidosis  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • alpha-D-Mannosidase Deficiencies, Lysosomal
  • alpha-D-Mannosidase Deficiency, Lysosomal
  • Alpha-D-Mannosidosis
  • alpha Mannosidase B Deficiency
  • Alpha-Mannosidase B Deficiency
  • alpha-Mannosidase Deficiencies
  • alpha Mannosidase Deficiency
  • alpha-Mannosidase Deficiency
  • Alpha-Mannosidosis, Type I
  • Deficiencies, alpha-Mannosidase
  • Deficiencies, Lysosomal alpha-D-Mannosidase
  • Deficiency, alpha-Mannosidase
  • Deficiency, Lysosomal alpha-D-Mannosidase
  • Lysosomal Alpha B Mannosidosis
  • Lysosomal alpha-D-Mannosidase Deficiencies
  • Lysosomal alpha D Mannosidase Deficiency
  • Lysosomal alpha-D-Mannosidase Deficiency
  • Mannosidosis, alpha B Lysosomal
  • Mannosidosis, alpha B, Lysosomal

Scope note

  • 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.

History note

  • 2004(1985)

In other languages

URI

http://www.yso.fi/onto/mesh/D008363

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