Analysis of Body Composition and Nutritional Status in Brazilian Phenylketonuria Patients

Overview

Journal Mol Genet Metab Rep

Specialty Endocrinology

Date 2016 Mar 26

PMID 27014574

Citations 15

Authors

Priscila Nicolao Mazzola

Tatiele Nalin

Kamila Castro

Margreet van Rijn

Terry G J Derks

Ingrid D S Perry

Alberto Scofano Mainieri

Ida Vanessa D Schwartz

Affiliations

Soon will be listed here.

Abstract

Background: Phenylketonuria (PKU) is characterized by phenylalanine (Phe) accumulation to toxic levels due to the low activity of phenylalanine-hydroxylase. PKU patients must follow a Phe-restricted diet, which may put them in risk of nutritional disturbances. Therefore, we aimed to characterize body composition parameters and nutritional status in Brazilian PKU patients also considering their metabolic control.

Methods: Twenty-seven treated PKU patients older than 5 years, and 27 age- and gender-matched controls, were analyzed for anthropometric features and body composition by bioelectrical impedance (BIA). Patients' metabolic control was assessed by historical Phe levels.

Results: There was no effect of PKU type, time of diagnosis, or metabolic control for any analyzed parameter. About 75% of patients and controls were eutrophic, according to their BMI values. There were no difference between groups regarding body composition and other BIA-derived parameters.

Conclusions: Brazilian PKU patients do not show differences in body composition and nutritional status in comparison with controls, regardless metabolic control. Although similar to controls, PKU patients may be in risk of disturbed nutritional and metabolic markers as seen for the general population.

Citing Articles

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Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.

Whitehall K, Rose S, Clague G, Ahring K, Bilder D, Harding C Orphanet J Rare Dis. 2024; 19(1):293.

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Morphofunctional Assessment beyond Malnutrition: Fat Mass Assessment in Adult Patients with Phenylketonuria-Systematic Review.

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Body Composition Evaluation and Clinical Markers of Cardiometabolic Risk in Patients with Phenylketonuria.

Luengo-Perez L, Fernandez-Bueso M, Ambrojo A, Guijarro M, Ferreira A, Pereira-da-Silva L Nutrients. 2023; 15(24).

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The BMI Z-Score and Protein Energy Ratio in Early- and Late-Diagnosed PKU Patients from a Single Reference Center in Mexico.

Lopez-Mejia L, Fernandez-Lainez C, Vela-Amieva M, Ibarra-Gonzalez I, Guillen-Lopez S Nutrients. 2023; 15(4).

PMID: 36839315 PMC: 9960689. DOI: 10.3390/nu15040957.

References

Simopoulos A . The importance of the ratio of omega-6/omega-3 essential fatty acids. Biomed Pharmacother. 2002; 56(8):365-79. DOI: 10.1016/s0753-3322(02)00253-6. View

Rocha J, MacDonald A, Trefz F . Is overweight an issue in phenylketonuria?. Mol Genet Metab. 2013; 110 Suppl:S18-24. DOI: 10.1016/j.ymgme.2013.08.012. View

Poloni S, Perry I, DAlmeida V, Schwartz I . Does phase angle correlate with hyperhomocysteinemia? A study of patients with classical homocystinuria. Clin Nutr. 2012; 32(3):479-80. DOI: 10.1016/j.clnu.2012.07.012. View

Adamczyk P, Morawiec-Knysak A, Pludowski P, Banaszak B, Karpe J, Pluskiewicz W . Bone metabolism and the muscle-bone relationship in children, adolescents and young adults with phenylketonuria. J Bone Miner Metab. 2010; 29(2):236-44. DOI: 10.1007/s00774-010-0216-x. View

Schulpis K, Papassotiriou I, Tsakiris S, Vounatsou M, Chrousos G . Increased plasma adiponectin concentrations in poorly controlled patients with phenylketonuria normalize with a strict diet: evidence for catecholamine-mediated adiponectin regulation and a complex effect of phenylketonuria diet on atherogenesis.... Metabolism. 2005; 54(10):1350-5. DOI: 10.1016/j.metabol.2005.04.025. View

Trevisan L, Nalin T, Tonon T, Veiga L, Vargas P, Krug B . Access to treatment for phenylketonuria by judicial means in Rio Grande do Sul, Brazil. Cien Saude Colet. 2015; 20(5):1607-16. DOI: 10.1590/1413-81232015205.08302014. View

Rocha J, van Spronsen F, Almeida M, Ramos E, Guimaraes J, Borges N . Early dietary treated patients with phenylketonuria can achieve normal growth and body composition. Mol Genet Metab. 2013; 110 Suppl:S40-3. DOI: 10.1016/j.ymgme.2013.10.009. View

Arnold G, Vladutiu C, Kirby R, Blakely E, DeLuca J . Protein insufficiency and linear growth restriction in phenylketonuria. J Pediatr. 2002; 141(2):243-6. DOI: 10.1067/mpd.2002.126455. View

Fleischer N, Diez Roux A, Alazraqui M, Spinelli H, De Maio F . Socioeconomic gradients in chronic disease risk factors in middle-income countries: evidence of effect modification by urbanicity in Argentina. Am J Public Health. 2010; 101(2):294-301. PMC: 3020206. DOI: 10.2105/AJPH.2009.190165. View

10.

Vilaseca M, Lambruschini N, Gomez-Lopez L, Gutierrez A, Fuste E, Gassio R . Quality of dietary control in phenylketonuric patients and its relationship with general intelligence. Nutr Hosp. 2010; 25(1):60-6. View

11.

Bosy-Westphal A, Danielzik S, Dorhofer R, Later W, Wiese S, Muller M . Phase angle from bioelectrical impedance analysis: population reference values by age, sex, and body mass index. JPEN J Parenter Enteral Nutr. 2006; 30(4):309-16. DOI: 10.1177/0148607106030004309. View

12.

Burrage L, McConnell J, Haesler R, ORiordan M, Sutton V, Kerr D . High prevalence of overweight and obesity in females with phenylketonuria. Mol Genet Metab. 2012; 107(1-2):43-8. DOI: 10.1016/j.ymgme.2012.07.006. View

13.

Schulpis K, Papassotiriou I, Vounatsou M, Karikas G, Tsakiris S, Chrousos G . Morning preprandial plasma ghrelin and catecholamine concentrations in patients with phenylketonuria and normal controls: evidence for catecholamine-mediated ghrelin regulation. J Clin Endocrinol Metab. 2004; 89(8):3983-7. DOI: 10.1210/jc.2004-0311. View

14.

Kyle U, Earthman C, Pichard C, Coss-Bu J . Body composition during growth in children: limitations and perspectives of bioelectrical impedance analysis. Eur J Clin Nutr. 2015; 69(12):1298-305. DOI: 10.1038/ejcn.2015.86. View

15.

Allen J, McCauley J, Waters D, OConnor J, Roberts D, Gaskin K . Resting energy expenditure in children with phenylketonuria. Am J Clin Nutr. 1995; 62(4):797-801. DOI: 10.1093/ajcn/62.4.797. View

16.

Paiva S, Borges L, Halpern-Silveira D, Assuncao M, Barros A, Gonzalez M . Standardized phase angle from bioelectrical impedance analysis as prognostic factor for survival in patients with cancer. Support Care Cancer. 2009; 19(2):187-92. DOI: 10.1007/s00520-009-0798-9. View

17.

Kyle U, Bosaeus I, De Lorenzo A, Deurenberg P, Elia M, Gomez J . Bioelectrical impedance analysis--part I: review of principles and methods. Clin Nutr. 2004; 23(5):1226-43. DOI: 10.1016/j.clnu.2004.06.004. View

18.

Gregor M, Hotamisligil G . Inflammatory mechanisms in obesity. Annu Rev Immunol. 2011; 29:415-45. DOI: 10.1146/annurev-immunol-031210-101322. View

19.

Roubenoff R, Dallal G, Wilson P . Predicting body fatness: the body mass index vs estimation by bioelectrical impedance. Am J Public Health. 1995; 85(5):726-8. PMC: 1615438. DOI: 10.2105/ajph.85.5.726. View

20.

Avram M, Fein P, Borawski C, Chattopadhyay J, Matza B . Extracellular mass/body cell mass ratio is an independent predictor of survival in peritoneal dialysis patients. Kidney Int Suppl. 2010; (117):S37-40. DOI: 10.1038/ki.2010.192. View