NDST1 encodes N-deacetylase and N-sulfotransferase 1 (882 aa). Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Highest expression in Cells Cultured fibroblasts (85.9 TPM) and Spleen (62.8 TPM).

Intellectual disability, autosomal recessive 46 is associated with mutations in the NDST1 gene on chromosome 5.

The NDST1 protein participates in NDST1-4 N-deacetylates GlcNAc residues in heparan and NDST1-4 can sulfate a glucosamine residue in heparan to form heparan sulfate (HS) pathways.

NDST1 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for NDST1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 7 common features.

No clinical trials have been registered for intellectual disability, autosomal recessive 46.

19 publications have been identified in PubMed for intellectual disability, autosomal recessive 46. Research spans Case Report / Case Series (42%), Review / Meta-Analysis (37%), and Basic Science / Preclinical (11%).

Recent Publications

• Shokouhian E (2026). [PMID: 39847269](https://pubmed.ncbi.nlm.nih.gov/39847269/). *J Appl Genet*. [Review / Meta-Analysis]

• Filipic M (2026). [PMID: 41623317](https://pubmed.ncbi.nlm.nih.gov/41623317/). *Mol Genet Metab Rep*. [Review / Meta-Analysis]

• Spirito G (2026). [PMID: 41629344](https://pubmed.ncbi.nlm.nih.gov/41629344/). *NPJ Genom Med*. [Epidemiology / Natural History]

• Trilla P (2026). [PMID: 41758270](https://pubmed.ncbi.nlm.nih.gov/41758270/). *Cell Mol Neurobiol*. [Case Report / Case Series]

• Ahmad N (2026). [PMID: 41525964](https://pubmed.ncbi.nlm.nih.gov/41525964/). *Clin Chim Acta*. [Case Report / Case Series]

• Bin Hadyan MF (2026). [PMID: 41736722](https://pubmed.ncbi.nlm.nih.gov/41736722/). *Mol Genet Metab Rep*. [Case Report / Case Series]

• Yeh YH (2026). [PMID: 42047282](https://pubmed.ncbi.nlm.nih.gov/42047282/). *Biosci Rep*. [Basic Science / Preclinical]

• Baker M (2025). [PMID: 40700090](https://pubmed.ncbi.nlm.nih.gov/40700090/). *Vision (Basel)*. [Review / Meta-Analysis]

• Humeedat M (2025). [PMID: 40760536](https://pubmed.ncbi.nlm.nih.gov/40760536/). *Medicine (Baltimore)*. [Case Report / Case Series]

• Jimoh IJ (2025). [PMID: 39978794](https://pubmed.ncbi.nlm.nih.gov/39978794/). *Clin Genet*. [Epidemiology / Natural History]