HYPERORNITHINEMIA, HYPERAMMONEMIA, HOMOCITRULLINEMIA (HHH) SYNDROME PRESENTING WITH SEVERE LIVER FAILURE
Bibliographic record
Abstract
Hyperornithinemia, Hyperammonemia, Homocitrullinemia (HHH) syndrome is a rare autosomal recessive disorder of amino acid metabolism, which was first described by Shih et al in 1969. It has now been described in more than 50 patients. Patients present clinically with vomiting, lethargy, impaired growth and delayed developmental milestones. The characteristic neurological picture may include spastic gait, pyramidal tract signs, seizures and ataxia. As it is a urea cycle defect, patients will have elevated serum ammonia. The amino acid ornithine is elevated in the plasma and homocitrulline is elevated in the urine. The gene (ORNT1) for HHH syndrome has been identified and maps to 13q14. Different mutations in this gene have been reported. Liver involvement such as mild coagulopathy, hepatitis picture and acute liver failure responding to a protein restricted diet has been reported in HHH syndrome. Histopathology of the liver may show the typical picture of vacuolated hepatocytes filled with glycogen. Bizarre shapes and structures of the mitochondria are the usual findings by electron microscopy. We report a child who presented with severe coagulopathy and elevated liver transaminases. She was transferred to our centre for a possible liver transplant. A diagnosis of HHH syndrome was confirmed and the child was treated for her HHH syndrome. Complete recovery of the liver function was achieved. Once a protein restricted diet with adequate calories was started along with citrulline supplementation, the liver function including the elevated liver enzymes and coagulopathy dramatically returned to normal. To our knowledge, there are no reported cases in the literature of a patient who has HHH syndrome presenting with such severe liver failure. It is important to consider the diagnosis of HHH syndrome in patients presenting with liver failure and to treat them aggressively prior to considering liver transplantation.
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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) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 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".