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Coverage: 2020-01-01 onwards, 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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NGLY1 Deficiency: 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.
Genotype-specific molecular and functional trajectories in NGLY1 deficiency: a comparative multi-omics study of patient-derived iPSC neurons
Soukaina Amniouel et al., Zenodo (CERN European Organization for Nuclear Research) (17 September 2026)
https://doi.org/10.5281/zenodo.20059049
- 2.
Genotype-specific molecular and functional trajectories in NGLY1 deficiency: a comparative multi-omics study of patient-derived iPSC neurons
Soukaina Amniouel et al., Zenodo (CERN European Organization for Nuclear Research) (17 September 2026)
https://doi.org/10.5281/zenodo.22817557
- 3.
Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.
Yılmaz-Gümüş Emel et al., Molecular genetics and metabolism (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42361657/
- 4.
Impacts of N-glycanase1 (NGLY1) Down Regulation on the Function of Mitochondria.
Chen Yanwen et al., Journal of cellular biochemistry (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42634536/
- 5.
Natural history of NGLY1 deficiency: motor function & clinical features.
Morrison Grace et al., Human molecular genetics (11 May 2026)
https://pubmed.ncbi.nlm.nih.gov/42114141/
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.
NGLY1 Deficiency
NGLY1 deficiency is a very rare inherited condition caused by changes in the NGLY1 gene, which normally helps the body recycle proteins that carry sugar chains. Children may have developmental delay, movement problems such as choreoathetosis, seizures, reduced or absent tears, and liver changes. There is no cure, so care focuses on therapies, seizure control and eye lubrication, with research ongoing.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Common Questions
What is NGLY1 Deficiency?
NGLY1 deficiency is a very rare inherited condition caused by changes in the NGLY1 gene, which normally helps the body recycle proteins that carry sugar chains. Children may have developmental delay, movement problems such as choreoathetosis, seizures, reduced or absent tears, and liver changes. There is no cure, so care focuses on therapies, seizure control and eye lubrication, with research ongoing.
How many clinical trials are available for NGLY1 Deficiency?
RareWays currently indexes 2 clinical trials for NGLY1 Deficiency. 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 NGLY1 Deficiency 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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