Analysis of body composition and nutritional status in Brazilian phenylketonuria patients

被引：22

作者：

Mazzola, Priscila Nicolao ^{[1
,2
]}

Nalin, Tatiele ^{[3
]}

Castro, Kamila ^{[4
]}

van Rijn, Margreet ^{[2
]}

Derks, Terry G. J. ^{[2
]}

Perry, Ingrid D. S. ^{[5
]}

Mainieri, Alberto Scofano ^{[6
]}

Schwartz, Ida Vanessa D. ^{[3
,7
,8
]}

机构：

[1] Univ Fed Rio Grande do Sul, Programa Posgrad Ciencias Biol Bioquim, Ramiro Barcelos 2600 Anexo, BR-90035003 Porto Alegre, RS, Brazil

[2] Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Sect Metab Dis, POB 30-001, NL-9700 RB Groningen, Netherlands

[3] Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, Bento Goncalves 9500-43323M,POB 15053, Porto Alegre, RS, Brazil

[4] Univ Fed Rio Grande do Sul, Postgrad Program Pediat & Adolescent Hlth, Ramiro Barcelos 2400, BR-90035003 Porto Alegre, RS, Brazil

[5] Univ Extremo Sul Catarinense, Hlth Unit, Postgrad Program Collect Hlth, Univ 1105, BR-88806000 Criciuma, Brazil

[6] Hosp Clin Porto Alegre, Dept Pediat, Ramiro Barcelos 2400, BR-90035003 Porto Alegre, RS, Brazil

[7] Hosp Clin Porto Alegre, Med Genet Serv, Rua Ramiro Barcelos 2350, BR-90035003 Porto Alegre, RS, Brazil

[8] Univ Fed Rio Grande do Sul, Dept Genet, Rua Ramiro Barcelos 2350, BR-90035003 Porto Alegre, RS, Brazil

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2016年 / 6卷

关键词：

Inborn errors of metabolism; Phenylketonuria; Nutritional status; Body composition; Bioelectrical impedance; BIOELECTRICAL-IMPEDANCE ANALYSIS; AIR-DISPLACEMENT PLETHYSMOGRAPHY; PHASE-ANGLE; MASS INDEX; INCOME COUNTRIES; TREATED PATIENTS; RISK-FACTORS; GROWTH; CHILDREN; OBESITY;

D O I：

10.1016/j.ymgmr.2015.12.003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2016 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

引用

页码：16 / 20

页数：5

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