Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase ( <scp>MTHFR</scp> ) Deficiency in Childhood: A Case Series
Bibliographic record
Abstract
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of folate metabolism. A number of phenotypic findings have been identified to date, and we hereby wish to expand its phenotype based on our Irish experience of the condition. We follow three children with MTHFR deficiency in our National Centre for Inherited Metabolic Disorders, giving an estimated point prevalence of approx. 0.08 cases per 100,000 in the Republic of Ireland. Our first case was referred for a metabolic opinion at 19 months of age. She had a history of global developmental delay with hypotonia, microcephaly, nystagmus, rash, and seizures. The second patient presented at 12 years of age with an osteopenic femoral fracture on the background of low body mass index (BMI). The third case presented at ten and a half years of age with acute mood disturbance with challenging behavior and a history of focal seizures and intellectual disability. It has been reported that early treatment may provide clinical benefit; however, we wish to acknowledge the varying responses to treatment despite pleasing metabolic control in our patients. MTHFR deficiency is a challenging diagnosis in childhood, given its low prevalence, complex phenotypes, and varying responses to treatment. Presymptomatic treatment further to early diagnosis through newborn screening may further improve outcomes.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.003 | 0.006 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".