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A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.
No clinical trials have been registered for PRPS1 deficiency disorder.
5 publications have been identified in PubMed for PRPS1 deficiency disorder. Research spans Case Report / Case Series (60%) and Basic Science / Preclinical (40%).
Braid T (2026). [PMID: 41928471](https://pubmed.ncbi.nlm.nih.gov/41928471/). *HGG Adv*. [Basic Science / Preclinical]
Zocche D (2026). [PMID: 40808665](https://pubmed.ncbi.nlm.nih.gov/40808665/). *Am J Med Genet A*. [Case Report / Case Series]
Prasun P (2025). [PMID: 40776556](https://pubmed.ncbi.nlm.nih.gov/40776556/). *Ophthalmic Genet*. [Case Report / Case Series]
Tinker RJ (2025). [PMID: 40780579](https://pubmed.ncbi.nlm.nih.gov/40780579/). *Am J Ophthalmol*. [Case Report / Case Series]
Wan Y (2025). [PMID: 40677922](https://pubmed.ncbi.nlm.nih.gov/40677922/). *Hum Mutat*. [Basic Science / Preclinical]
Data assembled from 2 of 12 sources · Last updated Sep 18, 2026, 4:17 PM UTC
Common questions about PRPS1 deficiency disorder