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Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.
Features include: Strabismus, Loss of previously acquired skills (developmental regression), Seizure, and Low muscle tone (hypotonia) and 13 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 8 | Loss of previously acquired skills (developmental regression), Seizure, Global developmental delay |
Eyes | 4 | Strabismus, Nystagmus, Cerebral visual impairment |
Muscles | 3 | Low muscle tone (hypotonia), Generalized hypotonia, Damage to the optic nerve (optic atrophy) |
Kidneys and urinary system | 1 | Increased urinary O-linked sialopeptides |
Bones and joints | 1 | Mild bone density loss (osteopenia) |
NAGA encodes alpha-N-acetylgalactosaminidase (411 aa). Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids Highest expression in Cells EBV-transformed lymphocytes (39.3 TPM) and Lung (35.4 TPM).
Alpha-N-acetylgalactosaminidase deficiency type 1 is associated with mutations in the NAGA gene on chromosome 22.
NAGA is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.
Genetic testing for NAGA is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for alpha-N-acetylgalactosaminidase deficiency type 1.
1 publication has been identified in PubMed for alpha-N-acetylgalactosaminidase deficiency type 1. Research spans Basic Science / Preclinical (100%).
Bullert AJ (2024). [PMID: 39392776](https://pubmed.ncbi.nlm.nih.gov/39392776/). *ACS chemical neuroscience*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:09 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center