Abstract
A 19 year old woman with tyrosinaemia type 1 gave birth to a healthy girl after 41 weeks of gestation. Nitisinone was continued throughout the pregnancy (maternal levels 68–96 μmol/l, target level 30–60 μmol/l). Tyrosine levels during pregnancy were between 500 and 693 μmol/l (normal values 20–120 μmol/l) and phenylalanine levels between 8 and 39 μmol/l (normal values 30–100 μmol/l). Nitisinone was measurable in neonatal blood immediately after birth, at a level comparable to the simultaneous level in the mother. Nitisinone half-life in the neonate was estimated to be 90 h. Tyrosine levels in the neonate decreased from 1,157 μmol/l at birth (cord blood) to normal levels within 4 weeks. Phenylalanine levels in the neonate were normal from birth on. The child had a normal psychomotor development as assessed throughout the first year of life.
This is the first report worldwide of a pregnancy during treatment with nitisinone.
In this case, no adverse effects of nitisinone, maternal high tyrosine or low phenylalanine were detected in the child, so far. Long-term results in a larger cohort of pregnancies and births are needed to determine whether nitisinone can be administered safely during pregnancy.
Competing interests: None declared.
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Abbreviations
- HT-1:
-
Hepatorenal tyrosinaemia
- Phe:
-
Phenylalanine
- Tyr:
-
Tyrosine
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Acknowledgments
David Cassiman is a fundamental – clinical researcher for FWO-Vlaanderen.
Roland Devlieger is supported by FWO-Vlaanderen.
Karel Allegaert is supported by FWO-Vlaanderen.
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Communicated by: Claude Bachmann.
A Concise, 1 Sentence Take-Home Message
A Concise, 1 Sentence Take-Home Message
Normal 1-year development in a child born from a mother with tyrosinaemia type 1 taking nitisinone during pregnancy.
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Vanclooster, A. et al. (2011). Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience. In: JIMD Reports - Case and Research Reports, 2012/2. JIMD Reports, vol 5. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_88
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DOI: https://doi.org/10.1007/8904_2011_88
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