Abstract

Phenylketonuria (PKU) is an inborn error of metabolism in which the phenylalanine hydroxylase (PAH) enzyme, that converts phenylalanine to tyrosine, is defected. This defect results in a high serum and brain phenylalanine level, which can lead to serious health complications. The primary treatment of PKU is maintaining the level of serum phenylalanine by following a protein restricted diet. Although the PKU diet is mainly plant-based, many items that are phenylalanine-free are also higher in calories, carbohydrates and fat, predisposing this population to higher fat intakes and obesity risk. High fat diets and obesity are two indicators of increased cardiovascular disease (CVD) risk. Therefore, the aim of this retrospective study was to look at fat intakes and obesity to investigate whether individuals, between the ages of 1-50, with PKU were at an increased risk of CVD. In this study, body mass index (BMI), body mass index percentage (BMI%) and weight per length (WPL) statistics were used to analyze obesity, while percentage of calories coming from fat (PCF) was used to analyze fat intake. This study did not identify a significant increased risk for CVD in its participants as all studied average variables were found to be within or below the standard. Although the standard for obesity was not met, this study did identify mean values in the overweight category and upper confidence limits in both the overweight and obese categories for individuals younger than the age of two and individuals older than the age of eighteen. Moreover, higher BMI and PCF values were found in females than males. With these findings, this study did recognize that females and certain age groups are at greater risk for the development of CVD. This study also identified lower PCF values in younger-aged participants, indicating a risk of fat, fatty acid, and fat-soluble vitamin deficiencies.