Ontology highlight
ABSTRACT:
SUBMITTER: Zolkowska J
PROVIDER: S-EPMC6844282 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Żółkowska Joanna J Hozyasz Kamil K Ph D
International journal of reproductive biomedicine 20191001 10
<h4>Background</h4>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.<h4>Case</h4>We report the case of a mother with ...[more]