Component
Human branched-chain alpha-ketoacid dehydrogenase complex
Context-specific entity; species, compartment and exposure are stated on each claim.
3 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 isoleucine pathway in the primary biochemical study places BCKDH-mediated oxidative decarboxylation of the branched ketoacid upstream of 2-methylbutyryl-CoA.
Experimental context and source evidence
- evidence_access
- Primary full text, pathway background
- experimental_model
- Established pathway shown in a human ECHS1 disease/biochemistry study; not a new BCKDH assay in that paper.
- limitations
- Cofactor and catalytic evidence is separately linked from existing ThDP/DLD records.
- nutrient_topic
- L-Isoleucine collection; species, compartment, exposure, co-substrates and manipulation remain explicit. · L-Isoleucine
- plain_language
- A shared BCAA enzyme commits the carbon skeleton to further breakdown.
- primary_references
- Clinical and biochemical characterization of four patients with mutations in ECHS1. · 2015 · https://pubmed.ncbi.nlm.nih.gov/26081110/ · DOI 10.1186/s13023-015-0290-1
L-Isoleucine: transport, translation, catabolism and cross-nutrient mechanisms (2026-09-19) · lines 170–176
AI-assisted research curation; primary references, access levels and experimental limitations individually identified. Not publisher full text. · supports · Established pathway shown in a human ECHS1 disease/biochemistry study; not a new BCKDH assay in that paper. · source_derived_draft · unverified_draft
## isoleucine-bckdh-carbon-step A shared BCAA enzyme commits the carbon skeleton to further breakdown. The isoleucine pathway in the primary biochemical study places BCKDH-mediated oxidative decarboxylation of the branched ketoacid upstream of 2-methylbutyryl-CoA. Model: Established pathway shown in a human ECHS1 disease/biochemistry study; not a new BCKDH assay in that paper. Limitations: Cofactor and catalytic evidence is separately linked from existing ThDP/DLD records. Evidence access: Primary full text, pathway background Clinical and biochemical characterization of four patients with mutations in ECHS1. · 2015 · https://pubmed.ncbi.nlm.nih.gov/26081110/ · DOI 10.1186/s13023-015-0290-1
Complete structured claim and evidence
What acts on it
BCKDK phosphorylates BCKDH E1-alpha; inactivating human BCKDK variants reduced E1-alpha phosphorylation and circulating BCAAs.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_access
- Primary abstract
- experimental_model
- Human families with biallelic BCKDK variants and supporting mouse experiments.
- limitations
- This is a rare genetic syndrome, not a general explanation for autism.
- nutrient_topic
- L-Isoleucine collection; species, compartment, exposure, co-substrates and manipulation remain explicit. · L-Isoleucine
- plain_language
- A kinase normally slows amino-acid breakdown.
- primary_references
- Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. · 2012 · https://pubmed.ncbi.nlm.nih.gov/22956686/ · DOI 10.1126/science.1224631
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
L-Isoleucine: transport, translation, catabolism and cross-nutrient mechanisms (2026-09-19) · lines 258–264
AI-assisted research curation; primary references, access levels and experimental limitations individually identified. Not publisher full text. · supports · Human families with biallelic BCKDK variants and supporting mouse experiments. · source_derived_draft · unverified_draft
## isoleucine-bckdk-brake A kinase normally slows amino-acid breakdown. BCKDK phosphorylates BCKDH E1-alpha; inactivating human BCKDK variants reduced E1-alpha phosphorylation and circulating BCAAs. Model: Human families with biallelic BCKDK variants and supporting mouse experiments. Limitations: This is a rare genetic syndrome, not a general explanation for autism. Evidence access: Primary abstract Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. · 2012 · https://pubmed.ncbi.nlm.nih.gov/22956686/ · DOI 10.1126/science.1224631
Complete structured claim and evidence
Where it participates (unsigned role)
Phenylbutyrate inhibited recombinant BCKDH kinase, reduced E1-alpha phosphorylation and increased overall BCKDH activity in the reported assays.
Experimental context and source evidence
- evidence_access
- Primary abstract
- experimental_model
- Recombinant enzyme assays with supporting cellular/in-vivo experiments.
- limitations
- Protein species is not inferred from the patient part of the paper; activity responses varied among disease samples.
- nutrient_topic
- L-Isoleucine collection; species, compartment, exposure, co-substrates and manipulation remain explicit. · L-Isoleucine
- plain_language
- A medicine can remove the brake on BCAA breakdown.
- primary_references
- Phenylbutyrate therapy for maple syrup urine disease. · 2011 · https://pubmed.ncbi.nlm.nih.gov/21098507/ · DOI 10.1093/hmg/ddq507
L-Isoleucine: transport, translation, catabolism and cross-nutrient mechanisms (2026-09-19) · lines 298–304
AI-assisted research curation; primary references, access levels and experimental limitations individually identified. Not publisher full text. · supports · Recombinant enzyme assays with supporting cellular/in-vivo experiments. · source_derived_draft · unverified_draft
## isoleucine-phenylbutyrate-kinase A medicine can remove the brake on BCAA breakdown. Phenylbutyrate inhibited recombinant BCKDH kinase, reduced E1-alpha phosphorylation and increased overall BCKDH activity in the reported assays. Model: Recombinant enzyme assays with supporting cellular/in-vivo experiments. Limitations: Protein species is not inferred from the patient part of the paper; activity responses varied among disease samples. Evidence access: Primary abstract Phenylbutyrate therapy for maple syrup urine disease. · 2011 · https://pubmed.ncbi.nlm.nih.gov/21098507/ · DOI 10.1093/hmg/ddq507
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.