Variants in <i>AKR1D1</i> and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?
Bibliographic record
Abstract
Biallelic pathogenic variants in AKR1D1 cause Δ4-3-oxosteroid 5β-reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive. We report an infant who unexpectedly died at age 8 weeks with hepatic dysfunction and intracerebral hemorrhage. Characteristic of CBAS2, postmortem biochemical findings showed near-absent primary bile acids and accumulation of atypical bile acid intermediates. Subsequent genetic testing found compound heterozygous AKR1D1 variants: NM_005989.3:c.[593C>T];[782G>A], p.(Pro198Leu);(Arg261His). This highlights the diagnostic challenge posed by bile acid synthesis disorders, the need for early diagnosis, and the potential for fatal outcomes without early intervention. Given the treatable nature of CBAS2, we advocate for expanded newborn screening or for rapid targeted bile acid or genetic screening in infants presenting with cholestasis, prolonged jaundice, or hyperbilirubinemia.
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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 | 0.001 | 0.004 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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".