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

Preferred term

Aspartylglucosaminuria  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • AGA Deficiencies
  • AGA Deficiency
  • Aspartylglucosamidase Deficiencies
  • Aspartylglucosamidase Deficiency
  • Aspartylglycosaminuria
  • Aspartylglycosaminurias
  • Deficiencies, AGA
  • Deficiencies, Aspartylglucosamidase
  • Deficiencies, Glycoasparaginase
  • Deficiency, AGA
  • Deficiency, Aspartylglucosamidase
  • Deficiency, Glycoasparaginase
  • Glycoasparaginase Deficiencies
  • Glycoasparaginase Deficiency

Scope note

  • 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.

History note

  • 2009

In other languages

URI

http://www.yso.fi/onto/mesh/D054880

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