Dietary management of urea cycle disorders: European practice

Adam, Sarah; Almeida, Manuela Ferreira de; Assoun, M.; Baruteau, Julien; Bernabei, S.; Bigot, Servane; Champion, H.; Daly, Anne; Dassy, Martine; Dawson, S.; Dixon, Marjorie; Dokoupil, Katharina; Dubois, Sandrine; Dunlop, Carolyn; Evans, Sharon; Eyskens, François; Faria, Ana; Favre, Elisabeth; Ferguson, Christine S.; Cr, Gonçalves; Gribben, Joanna; Heddrich-Ellerbrok, M.; Jankowski, C.M.; Janssen-Regelink, R.; Jouault, C.; Laguerre, C.; Verge, S. Le; Link, R.; Lowry, S F; Luyten, K; MacDonald, Anita; Maritz, C.; McDowell, Sharon; Meyer, U.; Micciche, A.; Robert, M.; Robertson, Louise; Rocha, Júlio César; Rohde, Carmen; Saruggia, I.; Sjoqvist, E.; Stafford, J.; Terry, A.; Thom, Ruth; Kerckhove, K. Va nde; Rijn, M. van; Teeffelen-Heithoff, A. van; Wegberg, Annemiek M. J. van; Wyk, K. van; Vasconcelos, Carla Maria Lins de; Vestergaard, Helle; Webster, Diana; White, Fiona J.; Wildgoose, J.; Zweers, H.

doi:10.1016/j.ymgme.2013.09.003

Cited by 43 publications

(42 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…According to the guidelines for the management of UCDs (Häberle et al., ), patients with ARGD should be treated with nitrogen scavengers, in case of acute hyperammonemia as bolus or continuous intravenous infusion, or for long term management with oral dosing. These patients require as well severe natural protein restriction and increased use of essential amino acids supplementation (Adam et al., ).…”

Section: Clinical Relevancementioning

confidence: 99%

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations

et al. 2018

View full text Add to dashboard Cite

The urea cycle disorder argininemia is caused by a defective arginase 1 (ARG1) enzyme resulting from mutations in the ARG1 gene. Patients generally develop hyperargininemia, spastic paraparesis, progressive neurological and intellectual impairment, and persistent growth retardation. Interestingly, in contrast to other urea cycle disorders, hyperammonemia is rare. We report here 66 mutations (12 of which are novel), including 30 missense mutations, seven nonsense, 10 splicing, 15 deletions, two duplications, one small insertion, and one translation initiation codon mutation. For the most common mutations (p.Thr134Ile, p.Gly235Arg and p.Arg21*), which cluster geographically in Brazil, China, or Turkey, a structural rationalization of their effect has been included. In order to gain more knowledge on the disease, we have collected clinical and biochemical information of 112 patients, including the patients' genetic background and ethnic origin. We have listed as well the missense variants with unknown relevance. For all missense variants (of both known and unknown relevance), the conservation, severity prediction, and ExAc scores have been included. Lastly, we review ARG1 regulation, animal models, diagnostic strategies, newborn screening, prenatal testing, and treatment options.

show abstract

Section: Clinical Relevancementioning

confidence: 99%

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations

et al. 2018

View full text Add to dashboard Cite

show abstract

“…In UCD patients, the purpose of dietary treatment is to reduce the nitrogen load. In the most severe cases, treatment consists of a protein‐restricted diet (either with or without the use of AAM‐UCD [amino acid mixture in UCD]), supplemented with L‐arginine and/or L‐citrulline to support the urea‐cycle . Most patients also receive nitrogen scavengers.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry

Molema

Gleich

Burgard

et al. 2019

J of Inher Metab Disea

Self Cite

View full text Add to dashboard Cite

Organic acidurias (OAD) and urea-cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies widely, we assessed their long-term prescribed dietary treatment against published guideline and studied plasma amino acids levels. We analyzed data from the first visit recorded in the European registry and network for intoxication type metabolic diseases (E-IMD, Chafea no. 2010 12 01). In total, 271 methylmalonic aciduria (MMA) and propionic aciduria (PA) and 361 UCD patients were included. Median natural protein prescription was consistent with the recommended daily allowance (RDA), plasma L-valine (57%), and L-isoleucine (55%) levels in MMA and PA lay below reference ranges. Plasma levels were particularly low in patients who received amino acid mixtures (AAMs-OAD) and L-isoleucine:L-leucine:L-valine (BCAA) ratio was 1.0:3.0:3.2. In UCD patients, plasma L-valine, L-isoleucine, and L-leucine levels lay below reference ranges in 18%, 30%, and 31%, respectively. In symptomatic UCD patients who received AAM-UCD, the median natural protein prescription lay below RDA, while their L-valine and L-isoleucine levels and plasma BCAA ratios were comparable to those in patients who did not receive AAM-UCD. Notably, in patients with ornithine transcarbamylase syndrome (OTC-D), carbamylphosphate synthetase 1 syndrome (CPS1-D) and hyperammonemia-hyperornithinemia-homocitrullinemia (HHH) syndrome selective L-citrulline supplementation resulted in higher plasma L-arginine levels than selective L-arginine supplementation. In conclusion, while MMA and PA patients who received AAMs-OAD had very low BCAA levels and disturbed plasma

show abstract

“…In July to August 2014, a questionnaire (including 27 multiple choice or short answer questions) about 3 types of organic acidaemia's (isovaleric acidaemia [IVA], propionic acidaemia [PA] and methylmalonic acidaemia [MMA]) was sent to all European members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) and other European dietitians (n = 53) who have previously participated in surveys [7], [9]. They were requested to cascade this questionnaire to dietitians and physicians within their own country.…”

Section: Methodsmentioning

confidence: 99%

“…In other inherited metabolic conditions, it has already been established that dietary treatment varies widely and is influenced more by geographical region of care [7], [8] than disorder severity [9]. The PA dietary guidelines are based on low grade scientific evidence (mainly level D) and it is possible that these treatment guidelines may have little impact on individual practice.…”

Section: Introductionmentioning

confidence: 99%

Dietary practices in propionic acidemia: A European survey

Daly¹,

Pinto²,

Evans³

et al. 2017

Molecular Genetics and Metabolism Reports

Self Cite

View full text Add to dashboard Cite

BackgroundThe definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key importance.AimTo describe European dietary practices in the management of patients with PA prior to the publication of the European PA guidelines.MethodsThis was a cross-sectional survey consisting of 27 questions about the dietary practices in PA patients circulated to European IMD dietitians and health professionals in 2014.ResultsInformation on protein restricted diets of 186 PA patients from 47 centres, representing 14 European countries was collected. Total protein intake [PA precursor-free L-amino acid supplements (PFAA) and natural protein] met WHO/FAO/UNU (2007) safe protein requirements for age in 36 centres (77%). PFAA were used to supplement natural protein intake in 81% (n = 38) of centres, providing a median of 44% (14–83%) of total protein requirement. Seventy-four per cent of patients were prescribed natural protein intakes below WHO/FAO/UNU (2007) safe levels in one or more of the following age groups: 0–6 m, 7–12 m, 1–10 y, 11–16 y and > 16 y. Sixty-three per cent (n = 117) of patients were tube fed (74% gastrostomy), but only 22% received nocturnal feeds.ConclusionsThere was high use of PFAA with intakes of natural protein commonly below WHO/FAO/UNU (2007) safe levels. Optimal dietary management can only be determined by longitudinal, multi-centre, prospective case controlled studies. The metabolic instability of PA and small patient cohorts in each centre ensure that this is a challenging undertaking.

show abstract

Dietary management of urea cycle disorders: European practice

Cited by 43 publications

References 12 publications

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry

Dietary practices in propionic acidemia: A European survey

Contact Info

Product

Resources

About