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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Aspartylglucosaminuria
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Aspartylglucosaminuria

Término preferido

Aspartylglucosaminuria  

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Tipo

  • mesh:Descriptor

Definición

  • A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.

Concepto genérico

Etiquetas alternativas

  • AGA Deficiency
  • Aspartylglucosamidase Deficiency
  • Aspartylglycosaminuria
  • Glycoasparaginase Deficiency

En otras lenguas

  • Aspartylglucosaminurie

    francés

  • AGU (AspartylGlucosaminUrie)
  • Aspartyl-glucosaminurie
  • Aspartylglycosaminurie
  • Glycoasparaginase

URI

http://data.loterre.fr/ark:/67375/JVR-NL6DTP3G-V

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