Aspartylglucosaminuria: Clinical Presentation and Potential Therapies

Kimberly Goodspeed, Cynthia Feng, Minna Laine, Troy C. Lund

Research output: Contribution to journalReview articlepeer-review

10 Scopus citations


Aspartylglucosaminuria (AGU) is a recessively inherited neurodegenerative lysosomal storage disease characterized by progressive intellectual disability, skeletal abnormalities, connective tissue overgrowth, gait disturbance, and seizures followed by premature death. AGU is caused by pathogenic variants in the aspartylglucosaminidase (AGA) gene, leading to glycoasparagine accumulation and cellular dysfunction. Although more prevalent in the Finnish population, more than 30 AGA variants have been identified worldwide. Owing to its rarity, AGU may be largely underdiagnosed. Recognition of the following early clinical features may aid in AGU diagnosis: developmental delays, hyperactivity, early growth spurt, inguinal and abdominal hernias, clumsiness, characteristic facial features, recurring upper respiratory and ear infections, tonsillectomy, multiple sets of tympanostomy tube placement, and sleep problems. Although no curative therapies currently exist, early diagnosis may provide benefit through the provision of anticipatory guidance, management of expectations, early interventions, and prophylaxis; it will also be crucial for increased clinical benefits of future AGU disease-modifying therapies.

Original languageEnglish (US)
Pages (from-to)403-414
Number of pages12
JournalJournal of Child Neurology
Issue number5
StatePublished - Apr 2021

Bibliographical note

Funding Information:
The authors thank the patients and their families for their participation. Medical writing assistance was provided by Marjet Heitzer, PhD, of 360 Medical Writing and supported by Neurogene Inc.

Publisher Copyright:
© The Author(s) 2021.


  • adolescents
  • children
  • genetics
  • intellectual disability
  • lysosomal disease
  • mutation
  • pediatric

PubMed: MeSH publication types

  • Journal Article
  • Research Support, Non-U.S. Gov't
  • Review


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