Arginase Deficiency Presenting as Intractable Hiccups With Severe Hyperammonemia at One Month of Age
Bibliographic record
Abstract
Arginase deficiency is a rare urea cycle disorder and generally presents in children of preschool age with developmental delay and spasticity. Unlikely other urea cycle defects, patients rarely present hyperammonemic symptoms, especially in the early infantile period. A one-month-old male infant was admitted to our hospital because of abnormal respiratory condition with persistent hiccups and lethargy. The initial laboratory studies showed respiratory alkalosis and remarkable hyperammonemia [ammonia, 1970 ? mol/L (25 times normal)]. Amino acid chromatography showed a markedly elevated plasma arginine level (1131 µ mol/L; 10 times normal), and erythrocyte arginase activity was undetectable. Despite prompt diagnosis and normalization of ammonia and arginine levels by peritoneal dialysis, the patient developed neurodevelopmental impairment during the one-year follow-up period. In summary, this is a rare case of arginase deficiency in terms of early infantile onset and presentation of the severe form of hyperammone mia. Pathologic hiccups could be one of the clinical clues to the presence of hyperammonemia even in young infants with arginase deficiency. doi:10.4021/jmc141w
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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".