3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome
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Bibliographic record
Abstract
We are describing the long-term follow up of a 6 and half-year old patient from Saudi Arabia with Biotin-Resistant 3-Methylcrotonyl-coenzyme-A carboxylase (MCC) deficiency. She presented with acidosis, lower respiratory tract infection, vomiting, diarrhea and failure to thrive at 3 months of age. The diagnosis initially reached by tandem metabolic stroke (MS) and then confirmed by enzyme analysis. She was placed on appropriate therapy. During the next 6 years, she had no recurrence of the disease except she had a thrombocytopenic episode at 18 months. This case illustrates that isolated MCC deficiency of early onset shows a severe clinical course. However, the clinical symptoms and signs can be reversed with suitable therapy. The patient at present is a 6 and half-year-old girl who came to the service at the age of 2.5 months from a peripheral hospital. She was the product of full term spontaneous vaginal delivery and was discharged home at 2 days. She came back to the hospital with a chest infection at 8 days of age. The mother attributed tachypnea at 35 days of age, which was attributed to bronchiolitis. She was found to have gastro-esophageal reflux, diarrhea and acidosis. At that time, a blood sample sent for tandem MS revealed the MCC deficiency. Parents are first-degree cousins. The mother had 2 miscarriages and 3 normal children (one boy, and 2 girls). Physical examination at the time of first encounter at 2 months of age was unremarkable. There were no organomegaly and no neurological findings. She had a nappy rash with satellite lesions. She was placed on maple syrup urine disease formula with additional isoleucine and valine. She was prescribed Polycose, Polycitra 1 ml/kg / tid, Carnitine 200 mg/kg/day and Glycine 500 mg/kg/day. Nystatin ointment was given for the nappy rash. When seen again at 3 months, the mother gave a history of loose motions. She was otherwise, unremarkable. She was normal at 4, 6, 8, 12 and 14 months of age. At 17 months: following a severe respiratory tract infection, she developed a repeat episode of mild acidosis and was found to have thrombocytopenia, 13.000/ml. A bone marrow examination showed increased megakaryopoiesis, but normal erythropoiesis and normal granulocyte
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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 | 0.001 | 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 | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| 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 it