BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up

J Inherit Metab Dis. 2010 Dec;33(6):689-95. doi: 10.1007/s10545-010-9224-1. Epub 2010 Oct 13.

Abstract

The impact of tetrahydrobiopterin (BH(4)) treatment on phenylalanine tolerance, medical-food consumption, and nutrition status in patients with phenylketonuria (PKU) was investigated. Six children (5-12 years) with well-controlled PKU, responding to a BH(4) dose of 20 mg/kg per day, were assessed for 24 months. Mean dietary phenylalanine tolerance increased from 421 ± 128 to 1470 ± 455 mg/day. Height Z scores significantly improved from 0.25 ± 0.99 at baseline to 0.53 ± 1.16 at 24 months (p for trend < 0.001). Patients tolerated more phenylalanine and more intact protein and required less medical food (protein supplement). Improved linear growth and nutrition status was seen over the course of the 24-month follow-up. Due to the variation in phenylalanine tolerance, dietary recommendations should be tailored to the patient's individual requirements.

Publication types

  • Clinical Trial

MeSH terms

  • Biopterins / adverse effects
  • Biopterins / analogs & derivatives*
  • Biopterins / pharmacology
  • Biopterins / therapeutic use
  • Child
  • Child, Preschool
  • Dietary Proteins
  • Drug Tolerance
  • Eating / drug effects*
  • Female
  • Follow-Up Studies
  • Food, Formulated / statistics & numerical data
  • Humans
  • Male
  • Nutritional Status / drug effects*
  • Phenylalanine / pharmacology
  • Phenylketonurias / diet therapy
  • Phenylketonurias / drug therapy*
  • Phenylketonurias / physiopathology

Substances

  • Dietary Proteins
  • Biopterins
  • Phenylalanine
  • sapropterin