Orphanet: Aspartylglucosaminuria

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Disease definition

An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).


Classification level: Disorder
  • Synonym(s):
    • Aspartylglucosaminidase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E77.1
  • OMIM: 208400
  • UMLS: C0268225  C2931840
  • MeSH: C538402  D054880
  • GARD: 5854
  • MedDRA: 10068220

Detailed information

Article for general public


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