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Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.
Biomarker and diagnostic research for alpha-N-acetylgalactosaminidase deficiency has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for alpha-N-acetylgalactosaminidase deficiency.
4 publications have been identified in PubMed for alpha-N-acetylgalactosaminidase deficiency. Research spans Diagnostic / Biomarker (25%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).
Casazza K (2026). [PMID: 42008923](https://pubmed.ncbi.nlm.nih.gov/42008923/). *Mol Genet Metab*. [Review / Meta-Analysis]
Keshmiri F (2025). [PMID: 40994616](https://pubmed.ncbi.nlm.nih.gov/40994616/). *International journal of physiology, pathophysiology and pharmacology*. [Diagnostic / Biomarker]
Sakuraba H (2025). [PMID: 40446427](https://pubmed.ncbi.nlm.nih.gov/40446427/). *Molecular genetics and metabolism*. [Gene Therapy / Novel Therapeutics]
Bullert AJ (2024). [PMID: 39392776](https://pubmed.ncbi.nlm.nih.gov/39392776/). *ACS chemical neuroscience*. [Basic Science / Preclinical]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 2:44 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center