Diseases

Aspartylglucosaminuria

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

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MeSH Record

Synonyms

15 entry terms
  • AGA Deficiency
  • Aspartylglucosamidase Deficiency
  • Aspartylglycosaminuria
  • Glycoasparaginase Deficiency
  • AGA Deficiencies
  • Aspartylglucosamidase Deficiencies
  • Aspartylglucosaminurias
  • Aspartylglycosaminurias
  • Deficiencies, AGA
  • Deficiencies, Aspartylglucosamidase
  • Deficiencies, Glycoasparaginase
  • Deficiency, AGA
  • Deficiency, Aspartylglucosamidase
  • Deficiency, Glycoasparaginase
  • Glycoasparaginase Deficiencies

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2009

MeSH Record

Previous Indexing

  • Aspartylglucosylaminase (1975-2008)

MeSH Hierarchy

Tree Numbers

AMA Style

References

  1. National Library of Medicine. Aspartylglucosaminuria. Medical Subject Headings (MeSH). 2026. Unique ID D054880. http://id.nlm.nih.gov/mesh/2026/D054880
  2. Aspartylglucosaminuria. In: Wikipedia. https://en.wikipedia.org/wiki/Aspartylglucosaminuria
  3. Aspartylglucosaminuria. In: Wikidata. https://www.wikidata.org/wiki/Q4412533