Article
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Orphanet journal of rare diseases - 10 Jul 2013
Anjema Karen, van Rijn Margreet, Hofstede Floris C, Bosch Annet M, Hollak Carla E M, Rubio-Gozalbo Estela, de Vries Maaike C, Janssen Mirian C H, Boelen Carolien C A, Burgerhof Johannes G M, Blau Nenad, Heiner-Fokkema M Rebecca, van Spronsen Francjan J
Abstract excerpt
BACKGROUND: How to efficiently diagnose tetrahydrobiopterin (BH4) responsiveness in patients with phenylketonuria remains unclear. This study investigated the positive predictive value (PPV) of the 48-hour BH4 loading test and the additional value of genotype. METHODS: Data of the 48-hour BH4 loading test (20 mg BH4/kg/day) were collected at six Dutch university hospitals. Patients with ≥30% phenylalanine...
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