ArticleJournal of inherited metabolic disease2014
Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.
Article in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 31 citations in OpenAlex.
- Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.Orphanet journal of rare diseases · 2015Trial
- The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.Nutrients · 2026Review
- Genetic etiology and clinical challenges of phenylketonuria.Human genomics · 2022Review
- Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre.Orphanet journal of rare diseases · 2021Article
- Phenylketonuria.Nature reviews. Disease primers · 2021Review
- First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child.Molecular genetics and metabolism reports · 2019Article
- Treatment With Tetrahydrobiopterin Improves White Matter Maturation in a Mouse Model for Prenatal Hypoxia in Congenital Heart Disease.Journal of the American Heart Association · 2019Article
- Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency.Journal of human genetics · 2019Review
- Reproductive experience of women living with phenylketonuria.Molecular genetics and metabolism reports · 2018Article
- Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders.Journal of inherited metabolic disease · 2018Article
- Impact of pregnancy on inborn errors of metabolism.Reviews in endocrine & metabolic disorders · 2018Review
- The complete European guidelines on phenylketonuria: diagnosis and treatment.Orphanet journal of rare diseases · 2017Review
- [Psychomotor retardation and intermitent convulsions for 8 months in an infant].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran.Molecular genetics and metabolism reports · 2015Article
- Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sapropterin dihydrochloride (SD) is the first drug treatment for phenylketonuria (PKU), but due to the lack of data, its use in maternal PKU must be undertaken with caution as noted in the FDA and EMEA labels. We collected data from eight pregnancies in PKU women treated with SD and we analysed the phenotypes of these patients, their tetrahydrobiopterin (BH4) responsiveness, the indications for SD treatment, the efficacy (metabolic control, phenylalanine (Phe) tolerance and offspring outcome) and the safety data. Results showed that in the seven patients known to be responsive to BH4, the use of SD during pregnancy was efficient in terms of metabolic control and Phe tolerance. The indications for giving SD included the failure of the low-Phe diet (n = 3), the fact that some of these women had never experienced the low Phe diet (n = 2), one unexpected pregnancy in a woman currently on SD and one pregnancy where the foetus was known to have PKU. The offspring of these seven pregnancies were all normal babies with normal birth measurements and outcomes. No side effect related to SD was observed in these seven cases. In the eighth case, SD was prescribed as a rescue treatment without previous knowledge of the BH4 responsiveness to a woman who was already 8 weeks pregnant without diet. The birth occurred at 33 weeks of gestational age with Potter syndrome (probably related to the absence of metabolic control during the first trimester) and the baby died in the first hours of life. In conclusion, the data presented here provides the first evidence that treatment with pharmacological doses of SD appears to be efficient and safe in women with PKU during pregnancy. Its use should, however, be restricted to those women previously identified to be clear responders to BH4.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.