Abstract
Background: The 24- and 48-hour tetrahydrobiopterin (BH4) loading test (BLT) performed at a minimum baseline phenylalanine concentration of 400 mu mol/l is commonly used to test phenylketonuria patients for BH4 responsiveness. This study aimed to analyze differences between the 24- and 48-hour BLT and the necessity of the 400 mu mol/l minimum baseline phenylalanine concentration. Methods: Data on 186 phenylketonuria patients were collected. Patients were supplemented with phenylalanine if phenylalanine was = 30% reduction in phenylalanine concentration at >= 1 time point. Results: Eighty-six (46.2%) patients were responsive. Among responders 84% showed a >= 30% response at T = 48. Fifty-three percent had their maximal decrease at T = 48. Fourteen patients had >= 30% phenylalanine decrease not before T = 48. A >= 30% decrease was also seen in patients with phenylalanine concentrations
Original language | English |
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Pages (from-to) | S60-S63 |
Journal | Molecular Genetics and Metabolism |
Volume | 104 |
Issue number | SUPPL. |
DOIs | |
Publication status | Published - 2011 |
Keywords
- Phenylketonuria
- PKU
- Tetrahydrobiopterin
- BH4
- Sapropterin
- Phenylalanine