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International Journal of Reproductive BioMedicine
Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences of Yazd
ISSN: 1680-6433 EISSN: 1680-6433
Vol. 17, No. 10, 2019, pp. 763-770
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Bioline Code: rm19080
Full paper language: English
Document type: Case Report
Document available free of charge
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International Journal of Reproductive BioMedicine, Vol. 17, No. 10, 2019, pp. 763-770
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Low increase in phenylalanine tolerance during pregnancies in PKU woman with high prepregnancy BMI and postconceptional initiation of diet: A case report
Żółkowska, Joanna & Hozyasz, Kamil
Abstract
Background: Women with untreated phenylketonuria (PKU) are at an increased
risk to have offspring with multiple abnormalities due to teratogenic effects of
hyperphenylalaninaemia. Treatment goals include blood phenylalanine concentrations
between 120 and 360 μmol/L, however, there are limited pieces of evidence for
the practical management of pregnant PKU patient and prediction of phenylalanine
tolerance changes during a course of pregnancy.
Case: We report the case of a mother with classical PKU (p.R408W/p.R408W) and the
course of her two pregnancies with low phenylalanine tolerance increase (347mg and
227mg) despite the rewarding collaboration with a nutritionist.
Conclusion: This case report does not confirm the observation that a very low
phenylalanine tolerance increase in pregnancy of PKU patient is a marker of coexisting
PKU-affection in fetus.
Keywords
Phenylketonuria; Pregnancy care; Phenylalanine.
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© Copyright 2019 - Joanna Żółkowska and Kamil Hozyasz Alternative site location: http://www.ijrm.ir
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