Glutaric aciduria type 1: a review of phenotypic and genetic characteristics
Bibliographic record
Abstract
Glutaric aciduria type I (GA1) is an inherited metabolic disorder in which excessive levels of the amino acids lysine, hydroxylysine, and tryptophan accumulate in the body as a result of defective glutaryl-CoA dehydrogenase (GCDH) enzyme activity. Excessive metabolites are toxic that can cause damage to the brain, particularly due to the occurrence of basal ganglia and intellectual disability. Missense, splicing, and other deletion mutations in GCDH gene lead to the deficiency of the enzyme activity and are known to cause GA1. The severity of GA1 along with its neurological manifestations and clinical outcome is dependent upon the age at onset and therefore, early definitive diagnosis of GA1 becomes essential. GA1 occurs in approximately 1 of every 30,000-40,000 individuals worldwide that may reach up to 1 in 300 newborn babies in the Amish and Canadian communities. Owing to very high consanguinity rates in Saudi Arabia, it is presumed to be much more common in the Kingdom and is one of the initial disorders that were included in the country's neonatal screening program. In the current study, we have reviewed clinical manifestations, diagnosis, updated management, and mutation spectrum in GA1 with an example of one of our patients with GA1, and highlighted the importance of multipara-metric strategy in the early diagnosis and management of the disease.
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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 | 0.005 | 0.005 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".