Component
Succinic semialdehyde dehydrogenase / ALDH5A1
Succinic semialdehyde dehydrogenase / ALDH5A1. Species, exposure and limitations are retained in each linked 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.
Where it participates (unsigned role)
Of 95 patients in the database for whom age at diagnosis is recorded there are 40 individuals currently aged 18 years or older and only 3 patients were diagnosed after age 18 years, of 25 adults for whom data are available after age 18, 60% have a history of epilepsy with predominant seizure types being generalized tonic-clonic, absence and myoclonic, EEGs showed background slowing or generalized epileptiform discharges in two-thirds of adults, history of psychiatric symptoms was prominent with frequent anxiety, sleep disturbances and obsessive-compulsive disorder, and the illness had a progressive course with fatality at age 63 in the index case.
Experimental context and source evidence
- evidence_span
- {"source_cache": "artifacts/gaba-research/26268900.abstract.txt", "locator": "Indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "23c46d68a8a23c3c561454ff56a07ff6ffa1311207b3fb462b079e21a7f6375c", "start_char": 0, "end_char": 1604, "text_sha256": "23c46d68a8a23c3c561454ff56a07ff6ffa1311207b3fb462b079e21a7f6375c"}
- experimental_model
- Review of a clinical database cohort following identification of a patient diagnosed in the seventh decade
- exposure
- Naturally occurring succinic semialdehyde dehydrogenase deficiency followed into adulthood
- limitations
- A database review around an index case. The abstract reports the adult clinical picture; it does not report the accumulating metabolites, so nothing here rests on what backs up behind the missing enzyme.
- nutrient_topic
- GABA research collection; topical membership is not evidence of a direct clinical effect, and the sign of a GABA response depends on the chloride gradient of the cell it was measured in. · Gamma-aminobutyric acid
- organism
- Human
- plain_language
- When the enzyme that disposes of GABA is missing, most affected adults have epilepsy and psychiatric illness, and the course gets worse.
- primary_references
- [gb-p26268900] Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. (2015). https://pubmed.ncbi.nlm.nih.gov/26268900/ DOI: 10.1212/wnl.0000000000001906
- tissue_or_cell_type
- Whole body
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Review of a clinical database cohort following identification of a patient diagnosed in the seventh decade · source_derived_draft · unverified_draft
### gb-losing-the-shunt-enzyme Of 95 patients in the database for whom age at diagnosis is recorded there are 40 individuals currently aged 18 years or older and only 3 patients were diagnosed after age 18 years, of 25 adults for whom data are available after age 18, 60% have a history of epilepsy with predominant seizure types being generalized tonic-clonic, absence and myoclonic, EEGs showed background slowing or generalized epileptiform discharges in two-thirds of adults, history of psychiatric symptoms was prominent with frequent anxiety, sleep disturbances and obsessive-compulsive disorder, and the illness had a progressive course with fatality at age 63 in the index case. Condition category: normal nutrient_topic: GABA research collection; topical membership is not evidence of a direct clinical effect, and the sign of a GABA response depends on the chloride gradient of the cell it was measured in. plain_language: When the enzyme that disposes of GABA is missing, most affected adults have epilepsy and psychiatric illness, and the course gets worse. organism: Human tissue_or_cell_type: Whole body experimental_model: Review of a clinical database cohort following identification of a patient diagnosed in the seventh decade limitations: A database review around an index case. The abstract reports the adult clinical picture; it does not report the accumulating metabolites, so nothing here rests on what backs up behind the missing enzyme. exposure: Naturally occurring succinic semialdehyde dehydrogenase deficiency followed into adulthood evidence_span: {"source_cache": "artifacts/gaba-research/26268900.abstract.txt", "locator": "Indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "23c46d68a8a23c3c561454ff56a07ff6ffa1311207b3fb462b079e21a7f6375c", "start_char": 0, "end_char": 1604, "text_sha256": "23c46d68a8a23c3c561454ff56a07ff6ffa1311207b3fb462b079e21a7f6375c"} [gb-p26268900] Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. (2015). https://pubmed.ncbi.nlm.nih.gov/26268900/ DOI: 10.1212/wnl.0000000000001906
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.