Metabolic Control and Body Composition of Children and Adolescents With Phenylketonuria

Abstract

Objective: To characterize metabolic control and verify whether it has any relation with socioeconomic, demographic, and body composition variables in children and adolescents with phenylketonuria (PKU) diagnosed in the neonatal period. Methods: This cohort study collected retrospective data of 53 phenylketonuric children and adolescents. Data on family income, housing, and mother’s age and schooling level were collected, and anthropometric measures of body composition and distribution were taken. All dosages of phenylalanine (Phe) from the last five years (2015-2019) were evaluated and classified regarding their adequacy (cutoffs: 0-12 years: 2-6 mg/dL; 12-19 years: 2-10 mg/dL). Adequate metabolic control was considered if ≥7%) of the dosages were within desired ranges. Results: The mean (±standard deviation) age in the last year was 10.1±4.6 years. Most of them were under 12 years old (33/53; 62.3%) and had the classic form of the disease (39/53; 73.6%). Better metabolic control was observed among adolescents (68.4 versus 51.4%; p=0.019). Overweight was found in 9/53 (17%) and higher serum Phe levels (p<0.001) were found in this group of patients. Metabolic control with 70% or more Phe level adequacy decreased along with the arm muscle area (AMA) (ptendency=0.042), being 70.0% among those with low reserve (low AMA), and 18.5% among those with excessive reserve (high AMA). Conclusions: Adequate metabolic control was observed in most patients. The findings suggest that, in this sample, the levels of phenylalanine may be related to changes in body composition.

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

“…So, the host dietary pattern will have a profound effect on the microbiota, favoring the growth of species that uses these fuel sources, and this diet-induced microbial structure will have a crucial impact on host physiology and disease process (Figure 4) [205]. There are some studies evaluating overweight and/or obesity prevalence in patients with PKU; this is mainly in pediatric patients [127,[214][215][216][217][218][219][220][221][222][223][224][225][226][227][228][229][230], but also in mixed pediatric and adult populations [182,191,[231][232][233][234] or only adults [181,[235][236][237][238] reporting different Nutrients can directly interact with microorganisms to promote or inhibit their growth, shaping the gut microbial community. Also, diet-derived antigens and compounds can shape the gut microbiota in an indirect fashion by affecting host metabolism and its immune system.…”

“…There are some studies evaluating overweight and/or obesity prevalence in patients with PKU; this is mainly in pediatric patients [127,[214][215][216][217][218][219][220][221][222][223][224][225][226][227][228][229][230], but also in mixed pediatric and adult populations [182,191,[231][232][233][234] or only adults [181,[235][236][237][238] reporting different results. This has been recently reviewed [1,239], and cardiovascular risk through MetS concerns not only increased body weight but also increased body fat and, more precisely, increased visceral and other ectopic fat deposition [59].…”

Protein status in phenylketonuria: A scoping review

“…Methods to assess body protein status are presented in Table 3. The majority of studies utilised bioelectrical impedance analysis (BIA) [32,45,46,49e52,57,64,65,70e72], dual-energy X-ray absorptiometry (DEXA) [27,29,30,53,56,62,63,68] or skinfold techniques [31,44,55,58,66,69] for the anthropometric assessment of protein status. Protein status was also measured using deuterium dilution technique [73], total body electrical conductivity [48], peripheral quantitative computed tomography [43], total body potassium [59], and prompt gamma neutron capture analysis for total body nitrogen (TBN) [44].…”

“…Metabolic control has been reported to impact protein status. Poorer metabolic control (i.e., higher phenylalanine levels) resulted in improved protein status [32,66]. The cause for higher phenylalanine levels in participants included in these studies is unclear and could be related to increases in habitual dietary protein intake and/or reduced intake of protein substitutes.…”

“…Two studies measured protein status outcomes in participants taking BH4 and reported no difference in percent FFM compared to participants on diet only [65], and in branchial muscle area compared to general population reference data [69]. Genotype [29,53] nor socioeconomic status [66] were associated with protein status.…”