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

• Published in: Molecular genetics and metabolism Vol. 124; no. 4; pp. 238 - 242
• Main Authors: Evers, Roeland A.F., van Wegberg, Annemiek M.J., van Dam, Esther, de Vries, Maaike C., Janssen, Mirian C.H., van Spronsen, Francjan J.
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01.08.2018
• Subjects: Anthropomorphic measurements; Diet; Nutrition; Phenylketonuria; Tetrahydrobiopterin; MMA; 25OHD; Phenylketonuria; Diet; Nutrition; Tetrahydrobiopterin; Anthropomorphic measurements; PKU; phe; SD(S); BMI
• DOI: 10.1016/j.ymgme.2018.06.009
• ISSN: 1096-7192

The objective of this study was to assess the long-term effects of BH4 treatment on anthropomorphic measurements and nutritional biomarkers in phenylketonuria patients. 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. 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). 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.