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Hartnup Disease

Hartnup Disease Deep Research Fallback

⚠️ Fallback MONDO:0009324

Hartnup Disease Deep Research Fallback

Date: 2026-05-04

Provider Attempts

  • timeout 120 just research-disorder falcon Hartnup_Disease
  • Result: timed out after the bounded 120-second run and was terminated by signal 15.
  • Completed artifact: none.
  • timeout 120 just research-disorder openai Hartnup_Disease
  • Result: timed out after the bounded 120-second run and was terminated by signal 15.
  • Completed artifact: none.

Evidence Scope Used For Curation

The YAML curation therefore used structured Orphanet evidence plus cached PubMed records with exact snippet audit coverage.

Structured Source

  • ORPHA:2116 Hartnup disease structured record
  • Exact MONDO cross-reference: MONDO:0009324
  • Exact OMIM cross-reference: OMIM:234500
  • Inheritance: autosomal recessive
  • Genes: SLC6A19 and CLTRN
  • Phenotypes: neutral hyperaminoaciduria, cutaneous photosensitivity, ataxia, neuropsychiatric features, ocular findings, malabsorption, elevated urinary indican, and other HPO annotations

PubMed Records

  • PMID:15286787 Kleta et al. 2004
  • Identifies SLC6A19/B0AT1 mutations in the original Hartnup family and Japanese families.
  • Supports impaired neutral amino acid transport across renal proximal tubule and intestinal mucosa.
  • PMID:15286788 Seow et al. 2004
  • Independently identifies SLC6A19 as the Hartnup gene.
  • Shows tested disease-causing mutations reduce neutral amino acid transport in vitro.
  • PMID:16052352 Broer et al. 2006
  • Reviews the molecular basis of neutral aminoacidurias and B0AT1/SLC6A19 involvement in kidney and intestine.
  • PMID:2472426 Jonas and Butler 1989
  • Reports tryptophan ethyl ester bypass of defective gastrointestinal neutral amino acid transport in a child with Hartnup disease.
  • PMID:40852587 Alkhofash and Ali 2025
  • Tests Hartnup disease-causing B0AT1 variants and supports ER retention / plasma membrane trafficking defects as a mechanism for transport loss.
  • PMID:7955499 Oakley and Wallace 1994
  • Reports adult pellagra presentation diagnosed by urinary amino acid chromatography and responsive to oral nicotinamide.

Integration Notes

The YAML integrates the evidence into a mechanism chain:

  1. SLC6A19/B0AT1 transporter loss of function.
  2. Variant trafficking defects for selected B0AT1 alleles.
  3. Renal and intestinal neutral amino acid transport defect.
  4. Neutral hyperaminoaciduria, malabsorption, elevated urinary indican, and reduced tryptophan availability.
  5. Pellagra-like neurocutaneous manifestations responsive to nicotinamide in symptomatic disease and experimentally bypassed by tryptophan ethyl ester.

The provider timeouts mean no additional narrative deep-research synthesis was available beyond the evidence-backed curation and local audits.