Component
Pyridoxine-responsive seizures in infantile hypophosphatasia
Pyridoxine-responsive seizures in infantile hypophosphatasia. 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
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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
Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by loss-of-function mutations in the ALPL gene, characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity, severe forms may present with neurological problems such as seizures, hypotonia and irritability, and here an infantile hypophosphatasia patient presented with pyridoxine-responsive seizures and a novel homozygous mutation in the ALPL gene was detected, with a limited number of such patients in the literature.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_span
- {"source_cache": "artifacts/gaba-research/27086862.abstract.txt", "locator": "Indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "cb18a717a009e567b4480c6826b39f15109745dbb646c752ad66376b6b107854", "start_char": 0, "end_char": 1299, "text_sha256": "cb18a717a009e567b4480c6826b39f15109745dbb646c752ad66376b6b107854"}
- experimental_model
- Case report of an infant with a novel homozygous ALPL mutation
- exposure
- Loss-of-function ALPL mutation with pyridoxine-responsive seizures
- limitations
- A single case report. It shows the association in one patient and cannot establish how often it occurs or the mechanism by which the cofactor becomes unavailable.
- 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
- A child whose alkaline phosphatase does not work had seizures that only pyridoxine controlled.
- primary_references
- [gb-p27086862] Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene. (2016). https://pubmed.ncbi.nlm.nih.gov/27086862/ DOI: 10.4274/jcrpe.2798
- tissue_or_cell_type
- Bone and nervous system
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Case report of an infant with a novel homozygous ALPL mutation · source_derived_draft · unverified_draft
### gb-losing-the-phosphatase-costs-the-cofactor Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by loss-of-function mutations in the ALPL gene, characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity, severe forms may present with neurological problems such as seizures, hypotonia and irritability, and here an infantile hypophosphatasia patient presented with pyridoxine-responsive seizures and a novel homozygous mutation in the ALPL gene was detected, with a limited number of such patients in the literature. Condition category: machinery_impairment 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: A child whose alkaline phosphatase does not work had seizures that only pyridoxine controlled. organism: Human tissue_or_cell_type: Bone and nervous system experimental_model: Case report of an infant with a novel homozygous ALPL mutation limitations: A single case report. It shows the association in one patient and cannot establish how often it occurs or the mechanism by which the cofactor becomes unavailable. exposure: Loss-of-function ALPL mutation with pyridoxine-responsive seizures evidence_span: {"source_cache": "artifacts/gaba-research/27086862.abstract.txt", "locator": "Indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "cb18a717a009e567b4480c6826b39f15109745dbb646c752ad66376b6b107854", "start_char": 0, "end_char": 1299, "text_sha256": "cb18a717a009e567b4480c6826b39f15109745dbb646c752ad66376b6b107854"} [gb-p27086862] Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene. (2016). https://pubmed.ncbi.nlm.nih.gov/27086862/ DOI: 10.4274/jcrpe.2798
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
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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.