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Record W3168398034 · doi:10.1002/jmd2.12234

Dietary management and growth outcomes in children with propionic acidemia: A natural history study

2021· article· en· W3168398034 on OpenAlexafffund
Haneen Saleemani, Csilla Egri, Gabriella Horváth, Sylvia Stöckler‐Ipsiroglu, Rajavel Elango

Bibliographic record

VenueJIMD Reports · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMetabolism and Genetic Disorders
Canadian institutionsBC Children's HospitalUniversity of British Columbia
FundersPropionic Acidemia FoundationKing Abdulaziz UniversitySaudi Arabian Cultural BureauBC Children's Hospital
KeywordsValineIsoleucineMedicineLeucineDietary managementPropionic acidemiaMethionineCohortAmino acidPediatricsInternal medicineEndocrinologyBiologyBiochemistry

Abstract

fetched live from OpenAlex

BACKGROUND: Propionic acidemia (PROP) is an autosomal recessive inherited deficiency of propionyl-CoA carboxylase (PCC) which is involved in the catalytic breakdown of the amino acids valine, isoleucine, methionine, and threonine. PROP nutritional management is based on dietary protein restriction and use of special medical formulas which are free of the offending amino acids, but are enriched in leucine. The resulting imbalance among branched-chain amino acids negatively impacts plasma concentrations of valine and isoleucine, which might impact growth in children with PROP. OBJECTIVE AND METHODS: Our primary objective was to describe dietary protein and calorie intake and their impact on long-term growth outcomes of four PROP patients. This was accomplished through a longitudinal retrospective chart review following the cohort from birth to 18 years. RESULTS: scores. Energy intakes for all subjects were within 80% to 120% of the dietary reference intakes for age. All children had low intakes of intact protein compared with current guidelines and were supplemented with medical formula and single l-amino acids (valine and/or isoleucine), which led to the excess consumption of total protein. CONCLUSION: scores. Restricted intact protein consumption together with the abundant use of medical formula could have affected overall growth. To optimize dietary management in patients with PROP, further research is needed to determine the optimal intake of medical formula relative to intact protein.

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 categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.010
Threshold uncertainty score0.411

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 integrity0.0000.000
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 head0.005
GPT teacher head0.214
Teacher spread0.209 · 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.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

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

Citations8
Published2021
Admission routes2
Has abstractyes

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