Nonalcoholic fatty liver disease in adolescents with phenylketonuria

J Pediatr (Rio J). 2023 Mar-Apr;99(2):174-180. doi: 10.1016/j.jped.2022.08.003. Epub 2022 Oct 12.

Abstract

Objective: This study aimed to investigate non-alcoholic fatty liver disease (NAFLD) occurrence and factors associated with the disease in phenylketonuria (PKU) patients undergoing exclusive dietary treatment.

Method: This cross-sectional study included 101 adolescents 10 to < 20 years of age with PKU, who were undergoing exclusive dietary treatment and monitored since early diagnosis at a single reference service. Anthropometric and biochemical assessments were performed and food intake was documented, and an ultrasound diagnosis of NAFLD was established. Data were evaluated using the Student's t-test for continuous variables, the chi-square for categorical variables, and logistic regression using the Wald chi-squared test; differences with p < 0.05 were considered to be statistically significant.

Results: NAFLD was detected in 26 (25.7%) teenagers. There was no difference in prevalence between the sexes or nutritional status. The final logistic regression model revealed low sensitivity (26.1%) and high specificity (94.7%). The specificity suggested a lower likelihood of NAFLD in older adolescents, in the presence of normal or high levels of alkaline phosphatase, lower carbohydrate intake, and adequate protein and lipid intake.

Conclusions: The prevalence of NAFLD in adolescents with PKU was higher than that found in healthy Brazilian adolescents and similar to that found in obese Brazilian children, suggesting a higher risk for NAFLD in patients with PKU treated exclusively by dietary modification.

Keywords: Adolescents; Body mass index; Diet therapy; Inborn errors of metabolism; Non-alcoholic fatty liver disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Body Mass Index
  • Child
  • Cross-Sectional Studies
  • Diet / adverse effects
  • Humans
  • Non-alcoholic Fatty Liver Disease* / complications
  • Obesity / complications
  • Phenylketonurias* / complications
  • Prevalence
  • Risk Factors