Article
Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.
Journal of inherited metabolic disease - 1 Sept 2014
Feillet François, Muntau Ania C, Debray François-Guillaume, Lotz-Havla Amelie S, Puchwein-Schwepcke Alexandra, Fofou-Caillierez Ma'atem Béatrice, van Spronsen Francjan, Trefz Fritz Friedrich
Abstract excerpt
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...
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