Adult Refsum Disease research fallback
Provider attempts
- Falcon deep-research: attempted with
timeout 75s just research-disorder falcon Adult_Refsum_Diseaseon 2026-05-07 UTC; no artifact was produced before the command timed out. - OpenAI deep-research: attempted with
timeout 75s just research-disorder openai Adult_Refsum_Diseaseon 2026-05-07 UTC; no artifact was produced before the command timed out. - Perplexity deep-research: not attempted after two bounded provider timeouts; curation proceeded from generated Orphanet and cached PubMed evidence.
Literature scope used for curation
This fallback curation uses generated Orphanet cache ORPHA:773, GeneReviews PMID:20301527, molecular genetics reviews and primary studies for PHYH/PEX7 (PMID:14974078, PMID:12522768), structural enzymology for PAHX/PHYH (PMID:16186124), classic tracer and biochemical diagnostic studies (PMID:4164676, PMID:2475586), and treatment evidence for phytanic-acid dietary restriction and plasma exchange (PMID:6170281, PMID:1716665, PMID:10150979).
Curation synthesis
Adult Refsum disease is a peroxisomal metabolic disorder in which PHYH defects or PEX7-dependent peroxisomal matrix import defects impair phytanic acid alpha-oxidation. Dietary phytol/phytanic acid cannot be cleared normally, causing plasma and tissue phytanic acid accumulation. The modeled consequences include retinal/olfactory disease, peripheral neuropathy with ataxia, cardiac conduction/myocardial involvement, ichthyosis, and skeletal manifestations. Treatment targets the biochemical driver by restricting phytanic-acid-rich foods, avoiding fasting and sudden weight loss, and using plasmapheresis or lipid apheresis only for severe acute worsening or failure of dietary control.