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Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.

Abstract : BACKGROUND: Sapropterin dihydrochloride, an EMEA-approved synthetic formulation of BH4, has been available in Europe since 2009 for PKU patients older than 4 years, but its use with younger children is allowed in France based on an expert recommendation. We report the cases of 15 patients treated under the age of 4 years and demonstrate the safety and efficacy of this treatment for patients in this age group. PATIENTS AND METHOD: We report the use of BH4 in 15 PKU patients treated before the age of 4 years. RESULTS: Fifteen patients were enrolled in this retrospective study. Mean phenylalaninemia at diagnosis was 542±164 μM and all patients had mild PKU (maximal phenylalaninemia: 600-1200 μM). BH4 responsiveness was assessed using a 24-hour BH4 loading test (20 mg/kg), performed during the neonatal period (n = 11) or before 18 months of age (n = 4). During the test, these patients exhibited an 80±12% decrease in phenylalaninemia. Long-term BH4 therapy was initiated during the neonatal period (n = 7) or at the age of 13±12 months (n = 8). The median duration of treatment was 23 months [min 7; max 80]. BH4 therapy drastically improved dietary phenylalanine tolerance (456±181 vs 1683±627 mg/day, p < 0.0001) and allowed a phenylalanine-free amino acid mixture to be discontinued or not introduced in 14 patients. Additionally, in the eight patients treated after a few months of diet therapy, BH4 treatment significantly decreased mean phenylalaninemia (352±85 vs 254±64μM, p < 0.05), raised the percentage of phenylalaninemia tests within therapeutic targets [120-300 μM] (35±25 vs 64±16%, p < 0.05), and reduced phenylalaninemia variance (130±21 vs 93±27μM, p < 0.05). No side effects were reported. CONCLUSION: BH4-therapy is efficient and safe before the age of 4 years in mild PKU, BH4-responsive patients.
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Submitted on : Thursday, March 15, 2012 - 6:43:37 PM
Last modification on : Wednesday, March 30, 2022 - 2:34:36 PM

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Oriane Leuret, Magalie Barth, Alice Kuster, Didier Eyer, Loïc de Parscau, et al.. Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.. Journal of Inherited Metabolic Disease, Springer Verlag, 2012, 35 (6), pp.975-981. ⟨10.1007/s10545-012-9464-3⟩. ⟨inserm-00679536⟩



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