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Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.
No clinical trials have been registered for phytanoyl-CoA hydroxylase deficiency.
2 publications have been identified in PubMed for phytanoyl-CoA hydroxylase deficiency. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).
Vaz FM (2025). [PMID: 38693715](https://pubmed.ncbi.nlm.nih.gov/38693715/). *Journal of inherited metabolic disease*. [Review / Meta-Analysis]
Broadrup RL (2025). [PMID: 41394623](https://pubmed.ncbi.nlm.nih.gov/41394623/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Data assembled from 2 of 12 sources · Last updated Oct 3, 2026, 8:12 PM UTC