Body Composition Profile of Young Patients With Phenylketonuria and Mild Hyperphenylalaninemia

Abstract

Background:There is evidence in support of low bone density in young patients with disorders of phenylalanine metabolism; however, little is known about muscle and fat mass in these patients, especially in those with mild hyperphenylalaninemia (mHPA).Objectives:We aimed to evaluate body composition of children and adolescents with early-diagnosed disorders of phenylalanine metabolism.Patients and Methods:The study was conducted in the Institute of Child Health, which is the national center that performs newborn screening. Bone, muscle, and fat mass of 48 patients with phenylketonuria (PKU) and 32 patients with mild mHPA, aged five to 18 years, were compared to 57 age- and sex-matched controls. Dual energy X-ray absorptiometry was used for this purpose.Results:Compared to controls, bone mineral density (BMD) was lower in patients with PKU (mean total body BMD z score, 0.11; P = 0.03) and in those with mild mHPA (mean lumbar BMD z score, -0.34; P = 0.01). Lean body mass and fat mass were not significantly affected in the study group. Comparison between the two patients groups did not reveal any difference in body composition profiles; however, pubertal status appeared important for within-group comparisons. Fat mass was significantly increased in teenagers with PKU, which was more evident in those with poor dietary compliance irrespective of gender (fat mass z score, 0.66; P = 0.018). Finally, positive correlations were found not only between bone, muscle, and fat mass in both groups, but also between fat mass and Phenylalanine levels in patients with PKU (r, 0.46; P = 0.001).Conclusions:Bone mineral density appears suboptimal in young patients with disorders of phenylalanine metabolism. Adolescents seemed more prone to obesity, especially when their dietary adherence was poor, whereas muscle mass was not considerably affected. To ensure healthier bones and less fat content, close follow-up as well as proper lifestyle advice is needed.

Baseline Religion Involvement Predicts Subsequent Salivary Cortisol Levels Among Male But not Female Black Youth

“…Although religious involvement may also cause stress due to religious struggle ( 53 , 54 ), it is more likely to be associated with comfort and peace ( 55 ). The current study increases our understanding about the complex associations between sex ( 56 ), behavioral and mental health factors ( 57 ) and altered cortisol level ( 58 ) which is an important risk factor for development of obesity and metabolic disorders ( 59 - 61 ).…”

Overweight and Associated Factors in Children and Adolescents With Phenylketonuria: A Systematic Review

“…The authors suggest that the formula with reduced amounts of PHE prescribed in PKU therapy could contribute to the lower incidence of being overweight by inducing satiety and, consequently, decreasing the intake of calorically dense foods. Similarly, Doulgeraki et al 29 found a positive correlation between poor adherence to a diet and higher fat mass elevation in patients with PKU.…”

“…28 A significant increase in body fat mass was also observed in women adolescents with PKU compared to prepubertal patients. 29 Regarding the possible causal factors for the higher prevalence of overweight in the population with PKU, it was reported that dietary interventions can be a contributing factor, as well as the low incentive to practice physical activities. 25,28 An article 25 cited changes in body composition (lower percentage of lean mass) as a probable factor influencing excess weight in the individuals analyzed.…”

Analysis of body composition and nutritional status in Brazilian phenylketonuria patients

“…In this way, some studies have found that PKU patients, especially females, show higher BMI and fat mass than controls [11] , [12] . On the other hand, several authors have not found differences in body composition between patients and age-matched controls [14] , [15] , [28] , [29] , [30] as well as comparing patients' outcomes to reference values [31] , [32] , [33] , [34] . In our study, the majority of patients and controls showed to be eutrophic regarding their BMI values.…”