Component
Retinal degeneration in human SLC6A6 deficiency
Context-specific entity; species, compartment and exposure are stated on each claim.
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 acts on it
The two brothers carrying homozygous SLC6A6 p.Ala78Glu had panretinal degeneration and markedly reduced taurine in plasma, muscle and brain.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_access
- Primary abstract
- experimental_model
- Rare human family; retinal examinations and in-vivo spectroscopy.
- limitations
- Absence of extraocular clinical signs at that time does not mean every organ was unaffected.
- nutrient_topic
- Taurine collection; molecular form, preparation, species, exposure and manipulation remain explicit. · Taurine
- plain_language
- Transport failure affected taurine availability in multiple compartments.
- primary_references
- Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. · 2019 · https://pubmed.ncbi.nlm.nih.gov/31345061/ · DOI 10.1096/fj.201900914RR
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Taurine: synthesis, transport, mitochondrial decoding and nutrient interactions (2026-09-19) · lines 153–159
AI-assisted research curation; primary-abstract references and experimental limitations individually identified. Not publisher full text. · supports · Rare human family; retinal examinations and in-vivo spectroscopy. · source_derived_draft · unverified_draft
## taurine-taut-retina Transport failure affected taurine availability in multiple compartments. The two brothers carrying homozygous SLC6A6 p.Ala78Glu had panretinal degeneration and markedly reduced taurine in plasma, muscle and brain. Model: Rare human family; retinal examinations and in-vivo spectroscopy. Limitations: Absence of extraocular clinical signs at that time does not mean every organ was unaffected. Evidence access: Primary abstract Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. · 2019 · https://pubmed.ncbi.nlm.nih.gov/31345061/ · DOI 10.1096/fj.201900914RR
Complete structured claim and evidenceIn the younger, six-year-old sibling in the p.Gly399Val family, taurine treatment was associated with arrested retinal degeneration and clinically improved vision over follow-up.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_access
- Primary abstract
- experimental_model
- Same two-sibling report; retinal response documented in the younger child.
- limitations
- Not proof that established retinal loss is generally reversible or that treatment works with complete transport loss.
- nutrient_topic
- Taurine collection; molecular form, preparation, species, exposure and manipulation remain explicit. · Taurine
- plain_language
- Early retinal disease stabilized in one treated child.
- 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 169–175
AI-assisted research curation; primary-abstract references and experimental limitations individually identified. Not publisher full text. · supports · Same two-sibling report; retinal response documented in the younger child. · source_derived_draft · unverified_draft
## taurine-taut-retinal-treatment Early retinal disease stabilized in one treated child. In the younger, six-year-old sibling in the p.Gly399Val family, taurine treatment was associated with arrested retinal degeneration and clinically improved vision over follow-up. Model: Same two-sibling report; retinal response documented in the younger child. Limitations: Not proof that established retinal loss is generally reversible or that treatment works with complete transport loss. 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.