Component
Human PDXK Arg220Gln homozygous genotype
Homozygous c.659G>A PDXK genotype in Chelban 2019 Family 2.
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
Homozygous R220Q cases had PDXK activities of 0.5 and 1.19 pmol per dried-blood-spot punch per hour; controls ranged 2.6-14.7.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_location
- Figure 3F; Results
- experimental_model
- Human families, dried blood spots, recombinant PDXK variants.
- exposure
- Patient blood-spot assay.
- limitations
- Assay-specific values.
- nutrient_topic
- Vitamin B6 research collection; topical membership is not evidence of a direct dietary effect. · Vitamin B6
- organism
- Homo sapiens
- plain_language
- Inherited activation defects reduced enzyme output.
- primary_references
- [chelban2019] PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. (2019). https://pubmed.ncbi.nlm.nih.gov/31187503/ DOI: 10.1002/ana.25524
- tissue_or_cell_type
- Erythrocytes
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Vitamin B6: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 243–254
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Human families, dried blood spots, recombinant PDXK variants. · source_derived_draft · unverified_draft
### b6-transport-pdxk-patient-r220q Homozygous R220Q cases had PDXK activities of 0.5 and 1.19 pmol per dried-blood-spot punch per hour; controls ranged 2.6-14.7. Condition category: machinery_impairment nutrient_topic: Vitamin B6 research collection; topical membership is not evidence of a direct dietary effect. plain_language: Inherited activation defects reduced enzyme output. organism: Homo sapiens tissue_or_cell_type: Erythrocytes experimental_model: Human families, dried blood spots, recombinant PDXK variants. limitations: Assay-specific values. exposure: Patient blood-spot assay. evidence_location: Figure 3F; Results [chelban2019] PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. (2019). https://pubmed.ncbi.nlm.nih.gov/31187503/ DOI: 10.1002/ana.25524
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.