3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome
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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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 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 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".