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• W2289071792 abstract "Abstract Objective : To identify patients responsive to tetrahydrobiopterin (BH 4 ) in a sample of Brazilians with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency (HPA-PAH). Methods: Interventional study, convenience sampling. The inclusion criteria were: diagnosis of HPA-PAH; age ≥ 7 years; phenylalanine-restricted diet and phenylalanine (Phe) levels ≥ 6 mg/dL in all blood tests 1 year before inclusion. Blood samples were obtained the day before (day 1) and at 0, 4, 8 (day 2) and 24 h (day 3) after BH 4 intake. Phe levels were measured using tandem mass spectrometry. The criteria used to define responsiveness to BH 4 were: criterion 1- Phe reduction ≥ 30% 8 h after BH 4 administration; criterion 2 - Phe reduction ≥ 30% 24 h after BH 4 administration. Results: Eighteen patients were enrolled (median age, 14 years; 12 boys). Five patients were responsive to BH 4 , 3 according to both criteria (one classical PKU, two mild PKU); and two according to criterion 2 (one classical PKU; one indefinite PKU type). There were no differences between Phe serum levels on day 1 and at the other time points (p = 0.523). However, Phe levels on days 1 and 2 were significantly different (p = 0.006). The analysis of the phenotype-genotype association confirmed its multifactorial character." @default.
• W2289071792 created "2016-06-24" @default.
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• W2289071792 date "2011-01-01" @default.
• W2289071792 modified "2023-09-24" @default.
• W2289071792 title "Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency Responsividade à tetrahidrobiopterina em pacientes com deficiência de fenilalanina hidroxilase" @default.
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