Aspartylglucosaminuria

external

• Synonyms

  • AGU
  • Aspartate-linked glycoprotein accumulation
  • AGA mutation
  • Glycosylasparaginase mutation
  • Asn-GlcNAc accumulation

• Effects

  • Congenital skeletal dysplasia
  • Early onset dementia
  • Dysmorphic facies

• Parents

  • Lysosomal storage disorder