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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.

Year introduced: 2009

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Subheadings:

Tree Number(s): C16.320.565.595.100, C18.452.648.595.100

MeSH Unique ID: D054880

Entry Terms:

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

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