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Coverage: all available years, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Aspartylglucosaminuria: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.
Banning Antje et al., Journal of inherited metabolic disease (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42676279/
- 2.
Congenital Dermal Melanocytosis Associated With Aspartylglucosaminuria: Expanding the Dermatological Phenotype of a Rare Oligosaccharidosis.
Gaston James et al., The Australasian journal of dermatology (1 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41399194/
- 3.
Pharmacological chaperone treatment with Cystadane for aspartylglucosaminuria: an open-label, phase 1b/2, clinical trial
Ritva Tikkanen et al., Research Square (7 January 2026)
https://doi.org/10.21203/rs.3.rs-8103849/v1
- 4.
Biochemical characterization of aspartylglucosaminidase missense variants of unclear significance reveals different degrees of functional impairment.
Banning Antje et al., Frontiers in chemistry (1 January 2026)
https://pubmed.ncbi.nlm.nih.gov/42482697/
- 5.
Genetically Confirmed Case of Aspartylglycosaminuria (AGU).
Gowda Vykuntaraju K et al., Indian journal of pediatrics (1 October 2024)
https://pubmed.ncbi.nlm.nih.gov/38714642/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Aspartylglucosaminuria
Aspartylglucosaminuria is a rare inherited disorder in which an enzyme needed to break down certain sugar-protein compounds is missing, so these substances build up inside cells. It leads to slowly progressive intellectual disability, coarse facial features, joint and bone changes, and often behavioural difficulties. Care focuses on therapies, learning support and managing symptoms as they arise.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Aspartylglucosaminuria is very rare and little research has been published, so this page includes research from every year, including case reports about individual patients. Case reports are marked, and describe one person's experience rather than tested results.
Most Recent Research
Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by a deficiency of aspartylglucosaminidase (AGA), a hydrolase involved in the degradation of N-glycosylated proteins. Currently, no approved therapies are available for AGU. Development of enzyme replacement therapy (ERT) for AGU has been hampered by the complex proteolytic processing and activation of the AGA enzyme that involves dimerization and cleavage into two subunits. Targeting of AGA into lysosomes is mainly accomplished by a mannose-6-phosphate receptor-mediated pathway, and both AGA subunits contain phosphorylated N-glycans. In this study, we have developed an overexpression system for an optimized human AGA enzyme and a truncated GlcNAc-1-phosphotransferase, S1S3, that is required for the mannose-6-phosphorylation. We here show that the Man-6-phosphorylation and cellular uptake of AGA are enhanced by the coexpression of S1S3, and high amounts of affinity-tagged recombinant human AGA can be expressed in HEK293T cells and purified from the culture medium. Impairment of the N-glycosylation of AGA results in poor uptake into cells, indicating that the Man-6-dependent route is the main endocytic pathway of AGA. Furthermore, for optimal uptake, both subunits of AGA need to be glycosylated and Man-6-phosphorylated. The results of this study enhance the understanding of the lysosomal targeting mechanisms of AGA and pave the way for the development of ERT for AGU.
Common Questions
What is Aspartylglucosaminuria?
Aspartylglucosaminuria is a rare inherited disorder in which an enzyme needed to break down certain sugar-protein compounds is missing, so these substances build up inside cells. It leads to slowly progressive intellectual disability, coarse facial features, joint and bone changes, and often behavioural difficulties. Care focuses on therapies, learning support and managing symptoms as they arise.
How many clinical trials are available for Aspartylglucosaminuria?
RareWays currently indexes 4 clinical trials for Aspartylglucosaminuria. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Aspartylglucosaminuria come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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