Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

Serwet Demirdas, Francjan J. van Spronsen, Carla E. M. Hollak, J. Hanneke van der Lee, Peter H. Bisschop, Fred M. Vaz, Nienke M. ter Horst, M. Estela Rubio-Gozalbo, Annet M. Bosch*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

16 Citations (Web of Science)


Introduction: In phenylketonuria (PKU), a natural protein-restricted dietary treatment prevents severe cognitive impairment. Nutrient deficiencies may occur due to strict diet. This study is aimed at evaluating the dietary intake and blood concentrations of micronutrients and essential fatty acids (FA), bone mineral density (BMD) and fracture history in patients on long-term dietary treatment. Methods: Sixty early diagnosed Dutch patients (aged 1-39 years) were included in a multi-center cross-sectional study. Their dietary intake, blood concentrations of micronutrients, FA, fracture history and BMD were assessed. Results: Selenium dietary intake and serum concentrations were low in 14 and 46% of patients, respectively. The serum 25-OH vitamin D2 + D3 concentration was low in 14% of patients while 20% of patients had a low vitamin D intake. Zinc serum concentrations were below normal in 14% of patients, despite adequate intake. Folic acid serum concentrations and intake were elevated. Despite safe total protein and fat intake, arginine plasma concentrations and erythrocyte eicosapentaenoic acid were below reference values in 19 and 6% of patients, respectively. Low BMD (Z-score

Original languageEnglish
Pages (from-to)111-121
Number of pages11
JournalAnnals of Nutrition and Metabolism
Issue number2
Publication statusPublished - 2017


  • Phenylketonuria
  • Micronutrients
  • Essential fatty acids
  • Bone mineral density
  • Phenylalanine
  • Osteopenia
  • Osteoporosis
  • DIET
  • PKU

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