Dietary management of urea cycle disorders: UK practice
Bibliographic record
Abstract
Adam S., Champion H., Daly A., Dawson S., Dixon M., Dunlop C., Eardley J., Evans S., Ferguson C., Jankowski C., Lowry S., MacDonald A., Maritz C., Micciche A., Robertson L., Stafford J., Terry A., Thom R., van Wyk K., Webster D., White F.J. & Wildgoose J. on behalf of the British Inherited Metabolic Diseases Group (BIMDG) Dietitian's Group. (2012) Dietary management of urea cycle disorders: UK practice. J Hum Nutr Diet. 25 , 398–404 Abstract Background: There is no published data describing UK dietary management of urea cycle disorders (UCD). The present study describes dietary practices in UK inherited metabolic disorder (IMD) centres. Methods: Cross‐sectional data from 16 IMD centres were collected by a questionnaire describing the management of UCD patients on prescribed protein‐restricted diets. Results: One hundred and seventy‐five patients [ N ‐acetylglutamate synthase deficiency, n = 3; carbamoyl phosphate synthase deficiency (CPS), n = 8; ornithine transcarbamoylase deficiency (OTC), n = 75; citrullinaemia, n = 41; argininosuccinic aciduria (ASA), n = 36; arginase deficiency, n = 12] were reported; 70% ( n = 123) aged 0–16 years; 30% ( n = 52) >16 years. Prescribed median protein intake decreased with age (0–6 months: 2 g kg −1 day −1 ; 7–12 months: 1.6 g kg −1 day −1 ; 1–10 years: 1.3 g kg −1 day −1 ; 11–16 years: 0.9 g kg −1 day −1 and >16 years: 0.8 g kg −1 day −1 ) with little variation between disorders. Adult protein prescription ranged 0.4–1.2 g kg −1 day −1 (40–60 g day −1 ). In the previous 2 years, 30% ( n = 53) were given essential amino acid supplements (EAAs) (CPS, n = 2; OTC, n = 20; citrullinaemia, n = 15; ASA, n = 7; arginase deficiency, n = 9). EAAs were prescribed for low plasma quantitative essential amino acids ( n = 13 centres); inadequate natural protein intake ( n = 11) and poor metabolic control ( n = 9). From diagnosis, one centre prescribed EAAs for all patients and one centre for severe defects only. Only 3% ( n = 6) were given branch chain amino acid supplements. Enteral feeding tubes were used by 25% ( n = 44) for feeds and 3% ( n = 6) for medications. Oral energy supplements were prescribed in 17% ( n = 30) of cases. Conclusions: In the UK, protein restriction based on World Health Organization ‘safe intakes of protein’, is the principle dietary treatment for UCD. EAA supplements are prescribed mainly on clinical need. Multicentre collaborative research is required to define optimal dietary treatments.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| 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".