Component
Human biallelic PLPBP impairment
Disease-associated genotypes studied in Darin 2016 fibroblasts.
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
PLPBP-deficient patient fibroblasts in Darin 2016 accumulated approximately two- to threefold more PLP than controls in the tested culture medium.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_location
- Indexed abstract; full-text discussion of cultured patient fibroblasts
- experimental_model
- Patient fibroblasts and biochemical studies in vitamin-B6-dependent epilepsy.
- exposure
- Patient cells cultured in normal medium containing serum and pyridoxine.
- limitations
- Later different cultures showed lower PLP; bulk PLP is not enzyme-specific cofactor availability.
- nutrient_topic
- Vitamin B6 research collection; topical membership is not evidence of a direct dietary effect. · Vitamin B6
- organism
- Homo sapiens
- plain_language
- A cellular handling defect can raise the measured PLP pool.
- primary_references
- [darin2016] Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. (2016). https://pubmed.ncbi.nlm.nih.gov/27912044/ DOI: 10.1016/j.ajhg.2016.10.011
- tissue_or_cell_type
- Patient skin fibroblasts
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Vitamin B6: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 413–424
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Patient fibroblasts and biochemical studies in vitamin-B6-dependent epilepsy. · source_derived_draft · unverified_draft
### b6-transport-plpbp-fibroblast-accumulation PLPBP-deficient patient fibroblasts in Darin 2016 accumulated approximately two- to threefold more PLP than controls in the tested culture medium. Condition category: machinery_impairment nutrient_topic: Vitamin B6 research collection; topical membership is not evidence of a direct dietary effect. plain_language: A cellular handling defect can raise the measured PLP pool. organism: Homo sapiens tissue_or_cell_type: Patient skin fibroblasts experimental_model: Patient fibroblasts and biochemical studies in vitamin-B6-dependent epilepsy. limitations: Later different cultures showed lower PLP; bulk PLP is not enzyme-specific cofactor availability. exposure: Patient cells cultured in normal medium containing serum and pyridoxine. evidence_location: Indexed abstract; full-text discussion of cultured patient fibroblasts [darin2016] Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. (2016). https://pubmed.ncbi.nlm.nih.gov/27912044/ DOI: 10.1016/j.ajhg.2016.10.011
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.