Newborns with C<sub>8</sub>‐acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation
Bibliographic record
Abstract
Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most commonly inherited defect of fatty acid oxidation. This autosomal recessive disorder is characterized by the tendency to become profoundly hypoglycaemic under fasting stress conditions, leading to lethargy, coma, brain injury and/or death. The most common mutation resulting in MCAD deficiency ascertained through individuals of northern European descent presenting with clinical symptoms is a single base-pair change (985A>G) that accounts for up to 90% of these abnormal alleles. In the general Nova Scotia population, which comprises largely individuals of northern European descent, this mutation is present at a frequency of 1 in 68. A recently implemented newborn screening programme for MCAD deficiency uses tandem mass spectrometry (MS/MS) to analyse blood spots from newborns for C8-acylcarnitine. After reviewing initial data from this newborn screening programme, we hypothesized that there was an unexpectedly high frequency of individuals with an MCAD 985A>G mutation and C8-acylcarnitine levels at the upper end of the normal range. A sample representing the upper 90th centile was screened for the presence of the 985A>Gmutation and 61 heterozygotes were identified, establishing a high frequency (1/10) of this 985A>G mutation in this selected population. We have demonstrated a relationship between heterozygosity for 985A>G and C8-acylcarnitine levels. These results contribute to the interpretation of C8-acylcarnitine levels and the establishment of a more clinically relevant screening cut-off point.
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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 | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| 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".