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Integration of Miniaturized Solid Phase Extraction and LC-MS/MS Detection of 3-Nitrotyrosine in Human Urine for Clinical Applications
Published on: July 14, 2017
Pregnancy during nitisinone treatment for tyrosinaemia type I: first human experience
A Vanclooster1, R Devlieger, W Meersseman
1Department of Pediatrics and Metabolic Center, University Hospital Gasthuisberg, University of Leuven, Herestraat 49, 3000, Leuven, Belgium, annick.vanclooster@uzleuven.be.
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.
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