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Table 9Variation in approach to assessing responsiveness to BH4

StudyDefinition of BH4 Responsiveness% Responders
Humphrey 2011121Reduction in blood Phe of >30% 15 hours after BH4 loading at 20mg/kg/dayNRa
Trefz 2010120Reduction in blood Phe of ≥30% after either a 20 mg/kg over 24 hour loading test or 20 mg/kg/day over 8 days94
Levy 2007113
Lee 2008114
Burton 2011112
Reduction in blood Phe of ≥30% after 8 days of BH4 at 10mg/kg/day19.8b
Trefz 2009115Reduction in blood Phe of ≥30% after 8 days of BH4 at 20 mg/kg/day plus a blood Phe level ≤300 μmol/L on Day 856
Vernon 2010116Reduction of blood Phe level of at least 30% or reduction to <360 μmol/L after Day 7 on BH4 at 10/mg/kg/day or at 20 mg/kg/day for a total of 30 days62 (classic PKU=27, variant PKU=100)
Lambruschini 2005118Reduction in blood Phe of ≥30% after 24 hours of BH4 at 20 mg/kg/day19.2
Burlina 2009117Reduction in blood Phe of ≥30% after 24 hours of BH4 at 20 mg/kg/day, and among those with Phe >450μmol/ L76,63c
Burton 2010119Reduction in blood Phe of ≥25% after 2 weeks of BH4 at 20 mg/kg/day among those with good control of Phe, an increase of Phe tolerance ≥200 mg/day by 4 weeks of RxNR

NR = not reported; Phe = phenylalanine; PKU = phenylketonuria

a

Responsiveness described in Muntau et al., 2002.122

b

Data on responsiveness for this study provided in Burton et al., 2007.123

c

All participants had previously demonstrated responsiveness.

Responsiveness described in Muntau et al., 2002.122

Data on responsiveness for this study provided in Burton et al., 2007.123

All participants had previously demonstrated responsiveness.

From: Results

Cover of Adjuvant Treatment for Phenylketonuria (PKU)
Adjuvant Treatment for Phenylketonuria (PKU) [Internet].
Comparative Effectiveness Reviews, No. 56.
Lindegren ML, Krishnaswami S, Fonnesbeck C, et al.

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