Component
Cardiomyopathy in human SLC6A6 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 acts on it
In two siblings with SLC6A6 p.Gly399Val and about 15% residual transport, supervised taurine treatment at 100 mg/kg/day normalized blood taurine and corrected cardiomyopathy after 24 months.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_access
- Primary abstract
- experimental_model
- Uncontrolled two-sibling longitudinal treatment report.
- limitations
- Not a dosing recommendation or evidence that all SLC6A6 variants respond; residual transport and timing matter.
- nutrient_topic
- Taurine collection; molecular form, preparation, species, exposure and manipulation remain explicit. · Taurine
- plain_language
- A partially working transporter permitted a clinical treatment response in this family.
- primary_references
- Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. · 2020 · https://pubmed.ncbi.nlm.nih.gov/31903486/ · DOI 10.1093/hmg/ddz303
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Taurine: synthesis, transport, mitochondrial decoding and nutrient interactions (2026-09-19) · lines 161–167
AI-assisted research curation; primary-abstract references and experimental limitations individually identified. Not publisher full text. · supports · Uncontrolled two-sibling longitudinal treatment report. · source_derived_draft · unverified_draft
## taurine-taut-heart-treatment A partially working transporter permitted a clinical treatment response in this family. In two siblings with SLC6A6 p.Gly399Val and about 15% residual transport, supervised taurine treatment at 100 mg/kg/day normalized blood taurine and corrected cardiomyopathy after 24 months. Model: Uncontrolled two-sibling longitudinal treatment report. Limitations: Not a dosing recommendation or evidence that all SLC6A6 variants respond; residual transport and timing matter. Evidence access: Primary abstract Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. · 2020 · https://pubmed.ncbi.nlm.nih.gov/31903486/ · DOI 10.1093/hmg/ddz303
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.