Multiple sulfatase deficiency research fallback
Provider attempts
- Falcon deep-research: initial call before YAML creation failed because the target disorder file did not yet exist; a bounded retry after YAML creation timed out after 75 seconds without producing an artifact.
- OpenAI deep-research: bounded attempt after YAML creation timed out after 75 seconds without producing an artifact.
- Perplexity deep-research: skipped after bounded Falcon/OpenAI failures; curation proceeded from generated Orphanet, PubMed, and full-text caches.
Literature scope used for curation
This fallback curation uses generated reference caches for ORPHA:585, primary SUMF1/FGE mechanism papers (PMID:12757705, PMID:12757706), a full-text MSD mechanism/clinical review (PMID:32414121), a systematic 80-case survey (PMID:32620537), a complex-care consensus statement (PMID:29397290), an ophthalmology literature review (PMID:36980153), a 2025 HCT case series (PMID:39789203), and a 2025 preclinical AAV9/SUMF1 study (PMID:39870870).
Curation synthesis
Multiple sulfatase deficiency is caused by biallelic SUMF1 variants affecting formylglycine-generating enzyme, an ER protein required to activate cellular sulfatases through post-translational FGly generation. Loss of FGE function reduces multiple sulfatase activities, causing glycosaminoglycan and sulfatide lysosomal storage, neurodegeneration, sensory involvement, ichthyosis, hepatosplenomegaly, skeletal manifestations, and characteristic biochemical findings. Established management is multidisciplinary and palliative/supportive; HCT has limited human case-series evidence and AAV9/SUMF1 has preclinical model-organism evidence.