Component
Biallelic ALDH7A1 disease genotypes studied by Mills 2006
Biallelic ALDH7A1 disease genotypes studied by Mills 2006
2 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
The antiquitin defect was linked to accumulation of alpha-AASA/P6C in the lysine degradation pathway.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- cross_nutrient
- Lysine catabolism generates the metabolite that can sequester PLP.
- experimental_model
- Affected children, expressed human ALDH7A1 variants and metabolite chemistry
- exposure
- ALDH7A1-associated disease and metabolite analysis.
- limitations
- This is inherited pathway failure, not lysine toxicity in healthy people.
- nutrient_topic
- Vitamin B6 research collection; topical membership is not evidence of a direct dietary effect. · Vitamin B6
- organism
- Homo sapiens
- plain_language
- A blocked lysine pathway builds up B6-reactive metabolites.
- primary_references
- [mills-2006-aldh7a1] Mutations in antiquitin in individuals with pyridoxine-dependent seizures (2006). https://doi.org/10.1038/nm1366 DOI: 10.1038/nm1366
- tissue_or_cell_type
- Patient biological samples and biochemical pathway analysis
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Vitamin B6: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 1158–1169
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Affected children, expressed human ALDH7A1 variants and metabolite chemistry · source_derived_draft · unverified_draft
### b6-neuro-aldh7a1-metabolite-accumulation The antiquitin defect was linked to accumulation of alpha-AASA/P6C in the lysine degradation pathway. Condition category: machinery_impairment nutrient_topic: Vitamin B6 research collection; topical membership is not evidence of a direct dietary effect. plain_language: A blocked lysine pathway builds up B6-reactive metabolites. organism: Homo sapiens tissue_or_cell_type: Patient biological samples and biochemical pathway analysis experimental_model: Affected children, expressed human ALDH7A1 variants and metabolite chemistry limitations: This is inherited pathway failure, not lysine toxicity in healthy people. exposure: ALDH7A1-associated disease and metabolite analysis. cross_nutrient: Lysine catabolism generates the metabolite that can sequester PLP. [mills-2006-aldh7a1] Mutations in antiquitin in individuals with pyridoxine-dependent seizures (2006). https://doi.org/10.1038/nm1366 DOI: 10.1038/nm1366
Complete structured claim and evidenceALDH7A1 variants identified in affected children abolished antiquitin activity in the reported functional assays.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- cross_nutrient
- Lysine catabolic machinery can impair intracellular B6 availability.
- experimental_model
- Affected children, expressed human ALDH7A1 variants and metabolite chemistry
- exposure
- Disease-variant functional expression.
- limitations
- Applies to the studied variants; not all possible ALDH7A1 alleles.
- nutrient_topic
- Vitamin B6 research collection; topical membership is not evidence of a direct dietary effect. · Vitamin B6
- organism
- Homo sapiens
- plain_language
- The inherited defect blocks a lysine-breakdown enzyme.
- primary_references
- [mills-2006-aldh7a1] Mutations in antiquitin in individuals with pyridoxine-dependent seizures (2006). https://doi.org/10.1038/nm1366 DOI: 10.1038/nm1366
- tissue_or_cell_type
- Patient-linked expression experiments
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Vitamin B6: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 1145–1156
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Affected children, expressed human ALDH7A1 variants and metabolite chemistry · source_derived_draft · unverified_draft
### b6-neuro-aldh7a1-variants ALDH7A1 variants identified in affected children abolished antiquitin activity in the reported functional assays. Condition category: machinery_impairment nutrient_topic: Vitamin B6 research collection; topical membership is not evidence of a direct dietary effect. plain_language: The inherited defect blocks a lysine-breakdown enzyme. organism: Homo sapiens tissue_or_cell_type: Patient-linked expression experiments experimental_model: Affected children, expressed human ALDH7A1 variants and metabolite chemistry limitations: Applies to the studied variants; not all possible ALDH7A1 alleles. exposure: Disease-variant functional expression. cross_nutrient: Lysine catabolic machinery can impair intracellular B6 availability. [mills-2006-aldh7a1] Mutations in antiquitin in individuals with pyridoxine-dependent seizures (2006). https://doi.org/10.1038/nm1366 DOI: 10.1038/nm1366
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.