Component

Biallelic PCYT1A loss-of-function genotypes in the 2014 patients

Biallelic PCYT1A loss-of-function genotypes in the 2014 patients. Species, exposure and limitations are retained in each linked claim.

2 recorded relationships. Experimental role, claim status and evidence remain attached to each record.

Read recorded mechanisms Open recursive mind map

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.

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.

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What it does

Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.

Recorded relationships

What it acts on

  1. The patient variants markedly reduced PCYT1A expression.

    Biallelic PCYT1A loss-of-function genotypes in the 2014 patients → Human PCYT1A protein expression source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    evidence_span
    {"source_cache": "artifacts/choline-research/24889630.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "2a370c0cdea7e750360683ff2fe878373965dc5f385e243fe6b0fce1a332ee99", "start_char": 0, "end_char": 1005, "text_sha256": "2a370c0cdea7e750360683ff2fe878373965dc5f385e243fe6b0fce1a332ee99"}
    experimental_model
    Two unrelated patients; PCYT1A expression and PC-synthesis experiments
    exposure
    Biallelic PCYT1A loss-of-function variants
    limitations
    Rare genetic disease does not establish choline intake as the cause of common fatty liver or diabetes.
    nutrient_topic
    Choline research collection; topical membership is not evidence of a direct dietary effect. · Choline
    organism
    Human
    plain_language
    Less of the pathway enzyme was available.
    primary_references
    [choline-p24889630] Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease. (2014). https://pubmed.ncbi.nlm.nih.gov/24889630/ DOI: 10.1073/pnas.1408523111
    tissue_or_cell_type
    Patient-derived material; liver/adipose phenotype
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Choline: metabolism, signaling and nutrient connections (2026-09-17) · lines 737–748

    AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Two unrelated patients; PCYT1A expression and PC-synthesis experiments · source_derived_draft · unverified_draft

    ### choline-pcyt1a-expression The patient variants markedly reduced PCYT1A expression. Condition category: machinery_impairment nutrient_topic: Choline research collection; topical membership is not evidence of a direct dietary effect. plain_language: Less of the pathway enzyme was available. organism: Human tissue_or_cell_type: Patient-derived material; liver/adipose phenotype experimental_model: Two unrelated patients; PCYT1A expression and PC-synthesis experiments limitations: Rare genetic disease does not establish choline intake as the cause of common fatty liver or diabetes. exposure: Biallelic PCYT1A loss-of-function variants evidence_span: {"source_cache": "artifacts/choline-research/24889630.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "2a370c0cdea7e750360683ff2fe878373965dc5f385e243fe6b0fce1a332ee99", "start_char": 0, "end_char": 1005, "text_sha256": "2a370c0cdea7e750360683ff2fe878373965dc5f385e243fe6b0fce1a332ee99"} [choline-p24889630] Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease. (2014). https://pubmed.ncbi.nlm.nih.gov/24889630/ DOI: 10.1073/pnas.1408523111
    Complete structured claim and evidence

  2. The PCYT1A defects markedly reduced phosphatidylcholine synthesis.

    Biallelic PCYT1A loss-of-function genotypes in the 2014 patients → Human phosphatidylcholine synthesis source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    evidence_span
    {"source_cache": "artifacts/choline-research/24889630.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "2a370c0cdea7e750360683ff2fe878373965dc5f385e243fe6b0fce1a332ee99", "start_char": 0, "end_char": 1005, "text_sha256": "2a370c0cdea7e750360683ff2fe878373965dc5f385e243fe6b0fce1a332ee99"}
    experimental_model
    Two unrelated patients; PCYT1A expression and PC-synthesis experiments
    exposure
    Biallelic PCYT1A loss-of-function variants
    limitations
    Rare genetic disease does not establish choline intake as the cause of common fatty liver or diabetes.
    nutrient_topic
    Choline research collection; topical membership is not evidence of a direct dietary effect. · Choline
    organism
    Human
    plain_language
    Choline supply alone did not describe the impaired synthetic machinery.
    primary_references
    [choline-p24889630] Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease. (2014). https://pubmed.ncbi.nlm.nih.gov/24889630/ DOI: 10.1073/pnas.1408523111
    tissue_or_cell_type
    Patient-derived material; liver/adipose phenotype
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Choline: metabolism, signaling and nutrient connections (2026-09-17) · lines 750–761

    AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Two unrelated patients; PCYT1A expression and PC-synthesis experiments · source_derived_draft · unverified_draft

    ### choline-pcyt1a-pc The PCYT1A defects markedly reduced phosphatidylcholine synthesis. Condition category: machinery_impairment nutrient_topic: Choline research collection; topical membership is not evidence of a direct dietary effect. plain_language: Choline supply alone did not describe the impaired synthetic machinery. organism: Human tissue_or_cell_type: Patient-derived material; liver/adipose phenotype experimental_model: Two unrelated patients; PCYT1A expression and PC-synthesis experiments limitations: Rare genetic disease does not establish choline intake as the cause of common fatty liver or diabetes. exposure: Biallelic PCYT1A loss-of-function variants evidence_span: {"source_cache": "artifacts/choline-research/24889630.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "2a370c0cdea7e750360683ff2fe878373965dc5f385e243fe6b0fce1a332ee99", "start_char": 0, "end_char": 1005, "text_sha256": "2a370c0cdea7e750360683ff2fe878373965dc5f385e243fe6b0fce1a332ee99"} [choline-p24889630] Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease. (2014). https://pubmed.ncbi.nlm.nih.gov/24889630/ DOI: 10.1073/pnas.1408523111
    Complete structured claim and evidence

In the sources

Preserved passages that mention this component, quoted exactly. Open one to read it in context.

    This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.

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