ArticleJournal of inherited metabolic disease2012
Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.
Article in Journal of inherited metabolic disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Protein Substitute Requirements of Patients with Phenylketonuria on BH4 Treatment: A Systematic Review and Meta-Analysis.Nutrients · 2021Pooled it
- Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Trial
- Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.Orphanet journal of rare diseases · 2013Trial
- Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.Molecular genetics and metabolismTrial
- Observational
- Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed.Archives of Razi Institute · 2023Article
- Suitability and Allocation of Protein-Containing Foods According to Protein Tolerance in PKU: A 2022 UK National Consensus.Nutrients · 2022Article
- Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.Molecular genetics and metabolism · 2021Article
- Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2 year prospective study.Molecular genetics and metabolism reports · 2020Article
- Case-control study about the acceptance of Pegvaliase in Phenylketonuria.Molecular genetics and metabolism reports · 2020Article
- Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age.Orphanet journal of rare diseases · 2018Article
- The complete European guidelines on phenylketonuria: diagnosis and treatment.Orphanet journal of rare diseases · 2017Review
- Tetrahydrobiopterin oral therapy recouples eNOS and ameliorates chronic hypoxia-induced pulmonary hypertension in newborn pigs.American journal of physiology. Lung cellular and molecular physiology · 2016Article
- Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.Journal of human genetics · 2016Article
- The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?Orphanet journal of rare diseases · 2016Article
- The challenge of long-term tetrahydrobiopterin (BH4) therapy in phenylketonuria: Effects on metabolic control, nutritional habits and nutrient supply.Molecular genetics and metabolism reports · 2015Article
- Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran.Molecular genetics and metabolism reports · 2015Article
- Phenylketonuria: translating research into novel therapies.Translational pediatrics · 2014Review
- Antioxidant treatment strategies for hyperphenylalaninemia.Metabolic brain disease · 2013Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSapropterin 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
methodWe report the use of BH4 in 15 PKU patients treated before the age of 4 years.
resultsFifteen 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 ± 64 μM, 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 ± 27 μM, p < 0.05). No side effects were reported.
conclusionBH4-therapy is efficient and safe before the age of 4 years in mild PKU, BH4-responsive patients.
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