Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU)

Molecular Genetics and Metabolism
Barbara BurtonChristine Sullivan

Abstract

It has recently been demonstrated that variability in blood phenylalanine levels is inversely correlated with IQ and is a better predictor of IQ in early and continuously treated patients with phenylketonuria (PKU) than mean blood phenylalanine levels. This suggests that stability of blood phenylalanine should be a therapeutic goal in patients with PKU. The purpose of this study was to determine if treatment with sapropterin in patients with BH4-responsive PKU would increase the stability of blood phenylalanine levels. The records of all patients treated with sapropterin in the PKU Clinic at Children's Memorial Hospital in Chicago were examined retrospectively. Patients were included in the study if they were responsive to sapropterin during a 2- to 4-week challenge (reduction of blood phenylalanine level of at least 25% after 2weeks of therapy or, in the case of patients with well-controlled blood phenylalanine at the time of testing, increased dietary phenylalanine tolerance by 4weeks of treatment). A total of 37 subjects were eligible for inclusion (16male; 21 female); the mean age was 12.6years (range, 1.5-32.0). The total number of observations (phenylalanine levels) for all subjects was 1391 with a mean of 39 per subject ...Continue Reading

References

Aug 16, 2008·Molecular Genetics and Metabolism·Vera AnastasoaieSusan Waisbren
Mar 5, 2010·Molecular Genetics and Metabolism·Shawn E ChristDesirée A White
Mar 5, 2010·Molecular Genetics and Metabolism·Kevin M Antshel
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