An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment
Bibliographic record
Abstract
Kasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. Turk J Pediatr 2019; 61: 282-285. Functional methionine synthase deficiency can be separated into two classes, cobalamin (Cbl) deficiency type E (CblE) and type G (CblG), which are the result of mutations that affect methionine synthase reductase or methionine synthase, respectively. Deficiency of methionine synthase activity may result in megaloblastic anemia without methylmalonic aciduria and neuromuscular abnormality of varying severity. Delayed milestones, ataxia, cerebral atrophy, muscular hypotonia, neonatal seizures, and blindness have been reported as the associated clinical findings. Early diagnosis and treatment are crucial for a more favorable diagnosis of the affected cases. Herein we report a three-month-old boy with CblG disease who presented with failure to thrive, chronic diarrhea, feeding intolerance, oral ulcers, microcephaly and hypotonia, and showed a dramatic response to treatment. In the first few months of life, megaloblastic anemia accompanied by apparent neurological involvement should direct physicians to order examinations like measurement of total homocysteine and methylmalonic acid levels to detect possible forms of inherited Cbl intracellular metabolism disorders.
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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 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.003 | 0.002 |
| 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".