The correlation of lipid profile and waist circumference with phenylalanine levels in adult patients with classical phenylketonuria

Some studies have pointed to a relationship between Phenyketonuria (PKU) and an increased cardiovascular risk (CVR). This study aimed to evaluate the influence of metabolic control on classical CVR factors in adult patients with PKU.It was a cross-sectional study conducted in patients older than 18 years with a diagnosis of classical PKU and under strict dietary control. Demographic, epidemiological and laboratory variables related to CVR were collected. The variables of metabolic control were some parameters related to phenylalanine (Phe) plasma levels.A total of 47 patients were included with a mean age of 36±10 years of which 30 (64%) were women. Multivariate analysis revealed that range Phe (B=-2.211, P=0.044, 95%CI: -4.354-(-0.068)) levels were within the model for triglyceride concentrations, while minimum (B=-2.803, P=0.051, 95%CI: -5.612-0.007) and range (B=-1.515, P=0.039, 95%CI: -2.945-(-0.084)) Phe levels were within the model for high-density lipoprotein cholesterol concentrations. Median Phe levels showed a stronger correlation with waist circumference (WC) (B=1.216, P=0.002, 95%CI: 0.462-1.969) than with body mass index (B=0.355, P=0.052, 95%CI: -0.004-0.714).High Phe levels and wide Phe fluctuations were related to weight gain, increased WC and lipid profile abnormalities. Systematic CVR assessments and comprehensive monitoring of Phe levels may be desirable to prevent or delay cardiovascular disease in PKU patients.