Component
Human FTCD deficiency
Context-specific entity; species, compartment and exposure are stated on each 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 it acts on
Among 18 newborn-screen-detected FTCD-deficient patients, most were asymptomatic at mean 56-month follow-up; 3/18 had educationally significant developmental delay and 4/16 mild self-limited anemia.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_access
- Primary abstract
- experimental_model
- Retrospective two-center newborn-screen cohort.
- limitations
- Ascertainment differs from early severe case series; follow-up is limited and this does not exclude later or rare severe effects. Correction record: The 2019 publisher erratum corrects patient 4 genotypes to c.1366dupG (p.E456Gfs*56) and c.236A>C (p.Q79P). The imported cohort-outcome claim does not use the erroneous genotype labels. https://onlinelibrary.wiley.com/doi/10.1002/jimd.12145
- nutrient_topic
- L-Histidine collection; species, compartment, exposure, co-substrates and manipulation remain explicit. · L-Histidine
- plain_language
- A biochemical processing defect did not uniformly produce severe disease.
- primary_references
- Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening. · 2019 · https://pubmed.ncbi.nlm.nih.gov/30740726/ · DOI 10.1002/jimd.12035
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
L-Histidine: supply, catabolism, histamine, receptors and cross-nutrient mechanisms (2026-09-19) · lines 194–200
AI-assisted research curation; primary references, access levels and experimental limitations individually identified. Not publisher full text. · supports · Retrospective two-center newborn-screen cohort. · source_derived_draft · unverified_draft
## histidine-ftcd-screening-spectrum A biochemical processing defect did not uniformly produce severe disease. Among 18 newborn-screen-detected FTCD-deficient patients, most were asymptomatic at mean 56-month follow-up; 3/18 had educationally significant developmental delay and 4/16 mild self-limited anemia. Model: Retrospective two-center newborn-screen cohort. Limitations: Ascertainment differs from early severe case series; follow-up is limited and this does not exclude later or rare severe effects. Correction record: The 2019 publisher erratum corrects patient 4 genotypes to c.1366dupG (p.E456Gfs*56) and c.236A>C (p.Q79P). The imported cohort-outcome claim does not use the erroneous genotype labels. https://onlinelibrary.wiley.com/doi/10.1002/jimd.12145 Evidence access: Primary abstract Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening. · 2019 · https://pubmed.ncbi.nlm.nih.gov/30740726/ · DOI 10.1002/jimd.12035
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.