Disease or Syndrome
aspartylglucosaminuria
Subclass of:
Lysosomal Storage Diseases
Definitions related to aspartylglucosaminuria:
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(aspartylglycosaminuria) A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood.NCI ThesaurusU.S. National Cancer Institute, 2021
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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 HeadingsU.S. National Library of Medicine, 2021
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Excretion of excess amounts of aspartylglucosamine in the urine.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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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,...National Center for Advancing Translational Sciences
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