Bibliographic record
Abstract
Abstract Hereditary folate malabsorption is a genetic disorder that results in the specific inability to absorb ingested folate in the intestine and to transport serum folate across the blood–brain barrier into the cerebrospinal fluid. Absorption of other vitamins and nutrients is unimpaired. Affected individuals come to medical attention during the first year of life with low serum and cerebrospinal folate levels, megaloblastic anaemia and immunologic and neurologic findings. The disorder is inherited as an autosomal recessive trait and is caused by mutations in the SLC46A1 gene, which encodes the proton‐coupled folate transporter (PCFT). Mutations at SLC46A1 have been identified in over 30 patients with hereditary folate malabsorption. Several of these result in failure to translocate PCFT at the cell membrane; one was shown to encode a protein that was targeted to the cell membrane but did not support folate uptake. Key Concepts Hereditary folate malabsorption is a rare autosomal recessive genetic disorder. The disorder results in decreased intestinal folate absorption and decreased serum folate levels. It also results in decreased cerebrospinal fluid folate levels owing to decreased folate transport across the blood–brain barrier. Patients have megaloblastic anaemia, immunological deficits and, in some cases, neurological problems. Hereditary folate malabsorption is caused by mutations in the SLC46A1 gene, which encodes the proton‐coupled folate transporter (PCFT). Treatment with parenteral folinic acid corrects both haematological and neurological problems in hereditary folate malabsorption. Study of patients with hereditary folate malabsorption demonstrated that PCFT was the physiological folate transporter in the small intestine. PCFT and folate receptor α are required for folate transport across the blood–brain barrier.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.005 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".