Risk factors of metabolic syndrome, and micronutrient status in sapropterin-treated phenylketonuria patients: a retrospective cohort study

Evers, R. (Roeland) (2017) Risk factors of metabolic syndrome, and micronutrient status in sapropterin-treated phenylketonuria patients: a retrospective cohort study. thesis, Medicine.

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Abstract

Phenylketonuria is an inborn error of metabolism leading to severe intellectual impairment if left untreated. Due to early diagnosis by neonatal screening and immediate institution of a natural protein restricted diet, patients show normal development, but the diet is socially very demanding. In sapropterin-responsive patients, daily pharmacological treatment with sapropterin results in a liberalized diet, which does not only have positive effects but may also carry risks. Our objective was to assess risk factors of metabolic syndrome, and micronutrient status in sapropterin-treated phenylketonuria patients. To this end, we conducted a retrospective cohort study comparing data from 39 sapropterin-treated and 39 birth date- and gender-matched phenylketonuria patients. Body mass index, serum cholesterol, serum triglycerides, biochemical parameters of micronutrients and data on prescribed vitamin/mineral supplements from baseline period and various time points after the start of sapropterin were collected. No major changes were seen in risk factors of metabolic syndrome, but serum values of certain micronutrients, most notably calcium and phosphate, had decreased significantly following sapropterin treatment. This was accompanied by a clear but not-significant increase in prescribed calcium supplements in sapropterin treated patients. To conclude, sapropterin-treated phenylketonuria patients as a group are not at risk for developing metabolic syndrome, but micronutrient status dropped as a result of sapropterin treatment.. Overall, a personalized approach is needed to ensure an optimal nutritional status for sapropterin-treated phenylketonuria patients.

Item Type:	Thesis (Thesis)
Supervisor name:	Supervisor - and Spronsen, Prof. dr. Francjan J. van and Department – University of Groningen, University Medical Cen
Faculty:	Medical Sciences
Date Deposited:	25 Jun 2020 10:51
Last Modified:	25 Jun 2020 10:51
URI:	https://umcg.studenttheses.ub.rug.nl/id/eprint/1225

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