Disease or Syndrome
aspartylglucosaminuria
Subclass of:
Lysosomal Storage Diseases
Definitions related to aspartylglucosaminuria:
  • (aspartylglycosaminuria) A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood.
    NCI
    U.S. National Cancer Institute, 2021
  • 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.
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2025
  • Excretion of excess amounts of aspartylglucosamine in the urine.
    Human Phenotype Ontology (HPO)
    The Human Phenotype Ontology Project, 2025
  • Aspartylglycosaminuria is a very rare lysosomal storage disease that causes a progressive decline in mental functioning. Infants with aspartylglycosaminuria appear healthy at birth with signs and symptoms beginning around the age of 2 or 3. Major symptoms may include coarse facial features, spine and eye deformities, behavior problems,...
    NIH Genetic and Rare Diseases
    National Center for Advancing Translational Sciences
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