MétaCan
Menu
Back to cohort
Record W2029353789 · doi:10.1093/brain/awh482

Glutaric aciduria type 1: a clinician's view of progress

2005· letter· en· W2029353789 on OpenAlexaboutno aff
Kevin A. Strauss

Bibliographic record

VenueBrain · 2005
Typeletter
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMetabolism and Genetic Disorders
Canadian institutionsnot available
Fundersnot available
KeywordsMedicinePsychologyPediatrics

Abstract

fetched live from OpenAlex

Glutaric aciduria type 1 (GA1) arises from an enzymatic block in the common degradation pathway for lysine and tryptophan. It is a cause of crippling striatal necrosis during infancy (Strauss et al ., 2003). Clinical experience teaches us two things about GA1. First, predicting precisely when and if basal ganglia injury will occur in an individual is presently difficult, if not impossible. Second, when such injuries ensue, we have no therapeutic instruments to stop them. Thus, to prevent injuries we need prediction, and there is ample clinical evidence that plasma and urine organic acid measurements are inadequate for this purpose (Strauss et al ., 2003). Real progress in the treatment of GA1 requires a deeper understanding of the premorbid state—the set of physiological adaptations entrained by abnormal organic acid metabolism in the brain. For this knowledge to be applied physiological changes that precede the catastrophic event must be defined, anatomical or biochemical abnormalities causatively can be linked to brain injury so that monitored in the clinical setting. Such a picture does not readily emerge from in vitro experiments, which generally use isolated single cell types from a variety of non-human species assayed under non-physiological conditions (see Kolker et al ., 2004, for review), Nevertheless, these results cannot be reproduced consistently (Freudenberg et al ., 2004), and are difficult to reconcile with the complex conditions that prevail in a living patient. Careful post-mortem studies are an invaluable tool for understanding physiological derangements that occur in life. In this issue of Brain , Dr Funk and colleagues report on six post-mortem brains from aboriginal Ojibway–Cree GA1 patients of Northern Canada to, in their words, ‘offer additional insight into the pathogenesis of the disorder … [to] help us develop an intervention strategy that could prevent the episode associated with acute striatal …

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Commentary · Consensus signal: Commentary
Teacher disagreement score0.145
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.000
Insufficient payload (model declined to judge)0.0000.000

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.

Opus teacher head0.013
GPT teacher head0.282
Teacher spread0.269 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designNot applicable
Domainnot available
GenreCommentary

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".

Quick stats

Citations15
Published2005
Admission routes1
Has abstractyes

Explore more

Same venueBrainSame topicMetabolism and Genetic DisordersFrench-language works237,207