Morquio B disease: a case report
Bibliographic record
Abstract
Mucopolysaccharidosis IV type B, or Morquio B disease (MBD), is an autosomal recessive disorder caused by a genetic mutation in GLB1 gene encoding for β-galactosidase on chromosome 3p22.33. β-galactosidase deficiency can result in two different conditions, GM1 gangliosidosis and MBD, of which MBD has a milder phenotype and presents later in life with keratan sulfate accumulation in the retina and cartilage. In this case report, we present a patient diagnosed with MBD at the age of 5 after initially presenting with Morquio dysostosis multiplex and characteristic radiographic findings. Genetic testing confirmed that the patient has β-galactosidase deficiency due to mutation W273l/N484K on GLB1 gene. The patient exhibited elevated mucopolysaccharide levels in urine at 18 mg/mmol and demonstrated an abnormal band pattern of urine oligosaccharides on electrophoresis. The activity of β-galactosidase in his white blood cells was reduced to 12.3 nmol/h/mg protein. At the time of diagnosis, the patient did not present with gait and ambulation issues, but his ability to walk progressively deteriorated in his adolescence as a result of instability and pain in the ankle, knee, and hip joints, accompanied by a global decrease in muscle strength. This case report is the first in the literature to provide an in-depth exploration of the orthopedic treatment and follow-up received by a young adolescent with MBD to provide symptom relief and improve walking ability.
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How this classification was reachedexpand
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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| 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) | 0.000 | 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 teacher head, 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".