Article (Scientific journals)
Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.
Feillet, Francois; Muntau, Ania C.; DEBRAY, François-Guillaume et al.
2014In Journal of Inherited Metabolic Disease
Peer Reviewed verified by ORBi
 

Files


Full Text
J Inherit Metab Dis Debray 2014.pdf
Publisher postprint (604.14 kB)
Request a copy

All documents in ORBi are protected by a user license.

Send to



Details



Abstract :
[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Feillet, Francois
Muntau, Ania C.
DEBRAY, François-Guillaume ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Lotz-Havla, Amelie S.
Puchwein-Schwepcke, Alexandra
Fofou-Caillierez, Ma Atem Beatrice
van Spronsen, Francjan
Trefz, Fritz Friedrich
Language :
English
Title :
Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.
Publication date :
2014
Journal title :
Journal of Inherited Metabolic Disease
ISSN :
0141-8955
eISSN :
1573-2665
Publisher :
Kluwer Academic Publishers, Netherlands
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 04 July 2014

Statistics


Number of views
59 (6 by ULiège)
Number of downloads
0 (0 by ULiège)

Scopus citations®
 
25
Scopus citations®
without self-citations
20
OpenCitations
 
26

Bibliography


Similar publications



Contact ORBi