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... > 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 > Carbohydrate Metabolism, Inborn Errors > 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
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mannosidase Deficiency Diseases > alpha-Mannosidosis

Término preferido

alpha-Mannosidosis  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

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

En otras lenguas

  • alpha-Mannosidose

    francés

  • Déficit en alpha-D-mannosidase lysosomale
  • Déficit en alpha-D-mannosidase lysosomiale
  • Déficit en alpha-Mannosidase
  • Mannosidose alpha B lysosomale
  • Mannosidose alpha B lysosomiale

URI

http://data.loterre.fr/ark:/67375/JVR-K85SRC1R-6

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RDF/XML TURTLE JSON-LD Creado 29/5/84, última modificación 8/7/13