Update on Dietary Compliance, Nutritional Status, and Neuropsychological Functioning in the Chilean Phenylketonuria cohort

Abstract

Since 1992, Chile has had a Newborn Screening Program for Phenylketonuria (PKU), which currently has an incidence of 1:18,916 newborns. The objective of the current study was to describe the 2020 follow up of the Chilean PKU cohort. The variables analyzed were: nutritional status, dietary compliance and neuropsychological functioning. We conducted a descriptive crosssectional statistical analysis. The 271 subjects with PKU had an average age of diagnosis of 17±8 days and a phenylalanine (Phe) level of 1122±546 umol/L. Approximately 80% of protein requirement came from a protein substitute. For those <18 years of age, 80% had good dietary compliance with Phe level between 120-360 umol/L and those >18 years had a median of 522 umol/L (95%CI 468 -636). Forty-four percent of the active PKU cohort had overweight/obesity. Eighty-five percent of the cohort >4 years of age had a normal intelligence quotient (IQ) (score 80-120). We observed a negative correlation (p <0.001; 95% CI: -0.5, -0.2) between IQ score and Phe level. The Chilean protocol and protein substitute subsidy for life, together with the follow-up and continuous education carried out by the clinical team has encouraged compliance.

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…Currently, the NBS program is beginning expansion in four phases to include 26 conditions after a pilot implemented at the INTA in 2017 [ 403 , 1175 ]. In addition to research regarding inclusion of other screening conditions like SCID [ 1118 , 1176 ] and cCMV (at least in high risk groups) [ 1177 ], others have focused on outcome studies for CH [ 1178 , 1179 ], PKU [ 1180 , 1181 ], and MSUD [ 1182 ].…”

Risk of Developing Insulin Resistance in Adult Subjects with Phenylketonuria: Machine Learning Model Reveals an Association with Phenylalanine Concentrations in Dried Blood Spots

“…In this analysis, we considered 30% of the adult cohort from this period. In several PKU cohorts, it has been observed that as age increases, adherence to treatment and follow-up lowers [ 8 , 9 , 24 , 25 ], and for this reason, the evidence suggests implementing the transition starting at 12 years of age, mainly to prepare subjects to transition from the pediatric stage to the adult stage [ 3 , 26 ]. Further, with the size of the adult PKU population increasing, more cardiometabolic disorders have appeared, which is similar to the general population [ 27 , 28 ].…”

“…One of the risk factors involved for the general population is the presence of obesity, which also affects PKU subjects. In the last Chilean PKU cohort update, 43% of subjects were overweight or obese, and the adult group had the major prevalence (43% over 18 years old) [ 9 ]. Rodrigues et al [ 29 ], in their systematic review and meta-analysis, observed that there was no relationship between Phe dietary restriction in PKU subjects and BMI; this association appeared when considering only classical PKU subjects, and especially when the PheCs were elevated [ 29 ].…”

“…The adult PKU population has been increasing over the years, and the scientific evidence highlights that, in adolescence and adulthood, adherence to treatment decreases, affecting life quality [ 8 , 9 ]. At the same time, this poor adherence has been related to neurological consequences [ 10 ] and health complications similar to those observed for obesity, hypertension, osteoporosis, and alterations in glucose metabolism [ 11 , 12 , 13 ].…”