Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders.
Argininosuccinic aciduria
dyslipidaemia and argininosuccinic aciduria
metabolic syndrome and argininosuccinic aciduria
resting energy expenditure
resting energy expenditure and argininosuccinic aciduria
urea cycle disorders
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
11 2019
11 2019
Historique:
received:
04
10
2018
revised:
28
04
2019
accepted:
30
04
2019
pubmed:
6
5
2019
medline:
25
8
2020
entrez:
7
5
2019
Statut:
ppublish
Résumé
No data are available on the specific energy needs of patients affected with Urea Cycle disorders (UCD) and especially argininosuccinic aciduria (ASA). In our experience, ASA patients tend to develop central adiposity and hypertriglyceridemia when treated with apparently adequate energy intake, while the other UCD do not. The aim of this study was to evaluate anthropometric parameters, body composition, risk of metabolic syndrome (MS) and resting energy expenditure (REE), both by indirect calorimetry (IC) and predictive equations, in UCD patients. Hypertension (5/13), pathological waist circumference-to-height ratio (WtHr) (6/13), hypertriglyceridemia (12/13), reduced HDL cholesterol (12/13), and MS (5/13) were found in ASA group. In the ASA cohort, the mean and median IC-REE were 88% of what was predicted by Food and Agriculture Organization of the United Nations and Harris-Benedict equations. The "other UCD" cohort did not show hypertension, dyslipidaemia nor MS; IC-REE was similar to the REE predicted by equations. A significant difference was seen for the presence of hypertension, dyslipidaemia, pathological WtHr, MS and IC-REE/predictive equations-REE in the two cohorts. ASA patients have a risk of overfeeding if their energy requirement is not assessed individually with IC. Excessive energy intake might increase the cardiovascular risk of ASA patients. We suggest to test ASA individuals with IC every year if the patient is sufficiently collaborative. We speculate that most of the features seen in ASA patients might depend on an imbalance of Krebs cycle. Further studies are needed to verify this hypothesis.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1105-1117Informations de copyright
© 2019 SSIEM.
Références
Baruteau J, Jameson E, Morris AA, et al. Expanding the phenotype in argininosuccinic aciduria: need for new therapies. J Inherit Metab Dis. 2017;40:357-368.
Grioni D, Furlan F, Corbetta C, et al. Epilepsy and argininosuccinic aciduria. Neuropediatrics. 2011;42(3):97-103.
Haberle J, Boddaert N, Burlina A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32.
Kho J, Tian X, Wong WT, et al. Argininosuccinate Lyase deficiency causes an endothelial-dependent form of hypertension. Am J Hum Genet. 2018;103(2):276-287.
Scaglia F, Brunetti-Pierri N, Kleppe S, et al. Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J Nutr. 2004;134(10 Suppl):2775S-2782S.
Trevisson E, Salviati L, Baldoin MC, et al. Argininosuccinatelyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. Hum Mutat. 2007;28(7):694-702.
Campo K, Castro G, Hamilton V, et al. Energy expenditure in Chilean children with maple syrup urine disease (MSUD). JIMD Rep. 2016;26:69-76.
Feillet F, Bodamer OA, Dixon MA, Sequeira S, Leonard JV. Resting energy expenditure in disorders of propionate metabolism. J Pediatr. 2000;136(5):659-663.
Gillingham MB, Harding CO, Schoeller DA, Matern D, Purnell JQ. Altered body composition and energy expenditure but normal glucose tolerance among humans with a long-chain fatty acid oxidation disorder. Am J Physiol Endocrinol Metab. 2013;305(10):1299-1308.
Hauser NS, Manoli I, Graf JC, Sloan J, Venditti CP. Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. Am J Clin Nutr. 2011;93:47-56.
Thomas JA, Bernstein LE, Greene CL, Koeller DM. Apparent decreased energy requirements in children with organic acidemias: preliminary observations. J Am Diet Assoc. 2000;100:1074-1076.
van Hagen CC, Carbasius Weber E, van den Hurk TAM, et al. Energy expenditure in patients with propionic and methylmalonicacidaemias. J Inherit Metab Dis. 2004;27:111-112.
World Health Organization (2000) Obesity: Preventing and Managing the Global Epidemic. Report of a WHO Consultation (WHO Technical Report Series 894). Geneva: World Health Organization.
Cole TJ, Bellizzi MC, Flegal KM, Dietz WH. Establishing a standard definition for child overweight and obesity worldwide: international survey. BMJ. 2000;320:1-6.
Browning L, Hsieh S, Ashwell M. A systematic review of waist-to-height ratio as a screening tool for the prediction of cardiovascular disease and diabetes: 0,5 could be a suitable global boundary value. Nutr Res Rev. 2010;23(2):247-269.
Nagy P, Kovacs E, Moreno LA, et al. Percentile reference values for anthropometric body composition indices in European children from the IDEFICS study. Int J Obes (Lond). 2014;38:S15-S25.
Lohman TG, Roche AF, Martorell R. In: Lohman TG, Roche AF, Martorell R, eds. Anthropometric Standardization Reference Manual. Champaign, IL: Human Kinetics Books; 1988:55-70.
Whelton PK, Carey RM, Aronow WS, et al. 2017 ACC/AHA/AAPA/ABC/ACPM/AGS/APhA/ASH/ASPC/NMA/PCNA. Guideline for the Prevention, Detection, Evaluation, and Management of High Blood Pressure in Adults: Executive Summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Hypertension. 2018;71(6):1269-1324.
Flynn JT, Kaelber DC, Baker-Smith CM, et al. Subcommitee on screening and management of high blood pressure in children. Clinical practice guideline for screening and management of high blood pressure in children and adolescents. Pediatrics. 2017;140(3):e20171904.
Hinton BJ, Fan B, Ng BK Shepherd JA. Dual energy X-ray absorptiometry body composition reference values of limbs and trunk from NHANES 1999-2004 with additional visualization methods. PLoS ONE. 2017;12(3):e0174180.
FAO/WHO/UNU Expert Consultation (2001) Human energy requirements: report of a joint FAO/WHO/UNU Expert Consultation. Rome, 17-24 Oct 2001. FAO Food and nutrition technical report series 1. Food and Agriculture Organization of the United Nations, United Nations University, World Health Organization, Rome 2004.
Harris JA, Benedict FG. A Biometric Study of Basal Metabolism in Man. Washington, DC: Carnegie Institute of Washington; 1919:279.
American Academy of Pediatrics. National Cholesterol Education Program: report on the expert panel on blood cholesterol levels in children and adolescents. Pediatrics. 1992;89:525-584.
National Cholesterol Education Program Expert Panel on Detection, Evaluation & Treatment of High Blood Cholesterol in Adults. Third report of the National Cholesterol Education Program (NCEP) xpert panel on detection, evaluation, and treatment of high blood cholesterol in adults (adult treatment panel III) final report. Circulation. 2002;106:3143-3421.
Miccoli R, Bianchi C, Odoguardi L, et al. Prevalence of the metabolic syndrome among Italian adults according to ATPII definition. Nutr Metab Cardiovasc Dis. 2005;15(4):250-254.
Peplies J, Jiménez-Pavón D, Savva SC, et al. Percentiles of fasting serum insulin, glucose, HbA1c and HOMA-IR in pre-pubertal normal-weight European children from the IDEFICS cohort. Int J Obes (Lond). 2014;38:S39-S47.
Zimmet P, Alberti KG, Kaufman F, et al. The metabolic syndrome in children and adolescents-an IDF consensus report. Pediatr Diabetes. 2007;8:299-306.
Bland JM, Altman DJ. Measuring agreement in method comparison studies. Stat Methods Med Res. 1999;8:135-160. PMID: 135-60.
Società Italiana di Nutrizione Umana (2014). IV Revisione dei Livelli di Assunzione di Riferimento di Nutrienti ed energia per la popolazione italiana (LARN). SICS Editor. www.sinu.it/. Accessed January 27, 2019.
Erez A. Argininosuccinic aciduria: from a monogenic to a complex disorder. Genet Med. 2013;15(4):251-257.
Lo K, Wong M, Khalechelvam P, Tam W. Waist-to-height ratio, body mass index and waist circumference for screening paediatric cardio-metabolic risk factors: a meta-analysis. Obes Rev. 2016;17(12):1258-1275.
Wilcox G, Strauss BJG, Francis DEM, Upton H, Boneh A. Body composition in young adults with inborn errors of protein metabolism-a pilot study. J Inherit Metab Dis. 2005;28:613-626.
Hook D, Diaz GA, Lee B, et al. Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate. Mol Genet Metab Rep. 2016;21(6):34-40.
Evans M, Truby H, Boneh A. The relationship between dietary intake, growth, and body composition in inborn errors of intermediary protein metabolism. J Pediatr. 2017;188:163-172.
Derks TGJ, van Rijn M. Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions. J Inherit Metab Dis. 2015;38(3):537-543.