Component
Classical type I xanthinuria phenotype
Classical type I xanthinuria phenotype. Species, exposure and limitations are retained in each linked claim.
1 recorded relationships. Experimental role, claim status and evidence remain attached to each record.
How nutrients influence it
Every nutrient with a recorded effect on this component, credited to the nutrient that acted rather than the chapter that recorded it. Open a nutrient to see the findings and the conditions they were measured under.
Other things that act on it
Enzymes, hormones, genes, and other components with a recorded effect. These are not nutrients, so they do not count toward the arrows above. Each finding names the chapter that recorded it.
How nutrients reach it in more than one step
Chains of two or more recorded steps that end here, grouped by the nutrient they start from. Each step is a separate finding, so a chain is a route a mechanism could take, not proof that it does.
Tracing routes…
What it does
Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.
What acts on it
Three type I xanthinuria subjects had confirmed XDH gene defects; one tested nonsense variant lacked duodenal XDH protein despite preserved mRNA.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_span
- {"source_cache": "artifacts/molybdenum-research/9153281.abstract.txt", "locator": "Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "736b96f30570738a8aa1f55f33d1839eef8ce5911ce2c51b221db2e325517a0e", "start_char": 0, "end_char": 1243, "text_sha256": "736b96f30570738a8aa1f55f33d1839eef8ce5911ce2c51b221db2e325517a0e"}
- experimental_model
- Genetic analysis of four classical-xanthinuria subjects
- exposure
- XDH nonsense and frameshift variants
- limitations
- Specific XDH deficiency, distinct from loss of all Moco synthesis or the combined XDH/AOX1 deficiency of MOCOS defects.
- nutrient_topic
- Molybdenum research collection; topical membership is not evidence of a direct dietary effect. · Molybdenum
- organism
- Homo sapiens
- plain_language
- An enzyme-specific genetic defect should not be labeled a shortage of the mineral.
- primary_references
- [mo-p9153281] Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. (1997). https://pubmed.ncbi.nlm.nih.gov/9153281/ DOI: 10.1172/jci119421
- tissue_or_cell_type
- Duodenal mucosa and genetics
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Molybdenum: cofactor assembly, sulfur metabolism and nutrient interactions (2026-09-17) · lines 1223–1234
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Genetic analysis of four classical-xanthinuria subjects · source_derived_draft · unverified_draft
### mo-xdh-type-i Three type I xanthinuria subjects had confirmed XDH gene defects; one tested nonsense variant lacked duodenal XDH protein despite preserved mRNA. Condition category: machinery_impairment nutrient_topic: Molybdenum research collection; topical membership is not evidence of a direct dietary effect. plain_language: An enzyme-specific genetic defect should not be labeled a shortage of the mineral. organism: Homo sapiens tissue_or_cell_type: Duodenal mucosa and genetics experimental_model: Genetic analysis of four classical-xanthinuria subjects limitations: Specific XDH deficiency, distinct from loss of all Moco synthesis or the combined XDH/AOX1 deficiency of MOCOS defects. exposure: XDH nonsense and frameshift variants evidence_span: {"source_cache": "artifacts/molybdenum-research/9153281.abstract.txt", "locator": "Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "736b96f30570738a8aa1f55f33d1839eef8ce5911ce2c51b221db2e325517a0e", "start_char": 0, "end_char": 1243, "text_sha256": "736b96f30570738a8aa1f55f33d1839eef8ce5911ce2c51b221db2e325517a0e"} [mo-p9153281] Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. (1997). https://pubmed.ncbi.nlm.nih.gov/9153281/ DOI: 10.1172/jci119421
Complete structured claim and evidence
The events it takes part in
A mechanism often involves more than two components. These are the full events, with every participant and its role.
Situations it appears in
Low-supply and faulty-machinery situations recorded in the chapters where this component plays a part.
In the sources
Preserved passages that mention this component, quoted exactly. Open one to read it in context.
Open hypotheses
Proposed ideas that involve this component. They are labeled as hypotheses and do not change any recorded statement.
This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.