Anthropomorphic measurements and nutritional biomarkers after 5 years of BH4 treatment in phenylketonuria patients

作者：Evers Roeland A F; van Wegberg Annemiek M J; van Dam Esther; de Vries Maaike C; Janssen Mirian C H; van Spronsen Francjan J^*

来源：Molecular Genetics and Metabolism, 2018, 124(4): 238-242.

DOI：10.1016/j.ymgme.2018.06.009

• Phenylketonuria
• Tetrahydrobiopterin
• Diet
• Nutrition
• Anthropomorphic measurements

Objective: The objective of this study was to assess the long-term effects of BH4 treatment on anthropomorphic measurements and nutritional biomarkers in phenylketonuria patients.
Study design: A retrospective cohort study was conducted using data from 21 BH4-treated (mean age +/- SD: 13.12 +/- 9.18 years) and 21 birth date- and gender-matched phenylketonuria patients. Study parameters were age- and gender-adjusted SD scores of anthropomorphic measurements, various nutritional biomarkers, and prescribed vitamin/mineral supplements from baseline and after 5 years of BH4 treatment. Parametric and non parametric statistical analyses were performed for continuous data, and McNemar's and Chi-squared tests were used for dichotomous outcomes.
Results: Prescribed natural protein intake increased following BH4 treatment (p < 0.001), while amino acid supplement intake decreased (p < 0.001). Weight SDS had increased significantly after 5 years of BH4 treatment. Serum concentration of cholesterol, hemoglobin, phosphate, and MMA had changed significantly after 5 years of BH4 treatment as well. These changes in nutritional biomarkers are however probably age-related, as no differences compared to the control group were seen. A tendency to an increase in calcium supplementation was observed in BH4-treated patients (p = 0.063).
Conclusions: The dietary changes following BH4 treatment had little effect on anthropomorphic measurements and nutritional biomarkers when compared to a control group, although dietary follow-up of BH4-treated patients is still warranted.

• 出版日期2018-8