MinireviewMaternal Phenylketonuria: An International Study
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Cited by (44)
Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids
2022, Molecular Genetics and MetabolismCitation Excerpt :Maternal PKU refers to the damage in neonates due to prenatal phenylalanine exposure [8–11]. The risk of having a baby with developmental abnormalities increases when maternal PKU is untreated during the perinatal period, resulting in high maternal blood phenylalanine levels (>360 μM) [12,13], whereas achieving a concentration below 600 μM of phenylalanine before the 10th week of gestation period may attenuate the risk to a reasonable level [14]. Infants born with untreated maternal PKU suffer from brain damage such as microcephaly and mental retardation [2,15].
Obstetric care in women with genetic disorders
2017, Best Practice and Research: Clinical Obstetrics and GynaecologyCitation Excerpt :During pregnancy, women should be followed closely by a nutritionist, as protein and dietary phenylalanine requirements will change with gestational age. Diet should be optimized to assure adequate weight gain during pregnancy [5]. Women with untreated PKU in the periconception period and the first trimester are at increased risk to have a fetus with multiple abnormalities due to the teratogenic effects of hyperphenylalaninemia.
Computational modelling of placental amino acid transfer as an integrated system
2016, Biochimica et Biophysica Acta - BiomembranesCitation Excerpt :This very large increase in BM exchanger activity reflects the attempt by the algorithm to match amino acid Ex and its low sensitivity. Finally, the model was used to explore the genetic condition of maternal phenylketonuria, where lack of phenylalanine hydroxylase causes an excess level of phenylalanine that can affect fetal development and function [37]. Phenylalanine is an exchange and facilitated transporter substrate.
Phenylalanine hydroxylase deficiency: Diagnosis and management guideline
2014, Genetics in MedicineGenetic polymorphisms of serotonin transporter and receptor 1A could influence success during embryo implantation and maintenance of pregnancy
2013, Fertility and SterilityCitation Excerpt :The LL genotype would maintain an increased 5-HT turnover toward its assimilation into the endometrial cells, which could compromise 5-HT availability for the embryo (1). The pathological 5-HT depletion induced in mothers with phenylketonuria, which could represent a similar situation, is associated with a higher incidence of embryonic defects and spontaneous miscarriage (9, 30, 31). The effect of serotonin selective re-uptake inhibitors on SERT is expected to induce an increase of extracellular 5-HT levels, which would have a deleterious effect on the embryo (8) and, as mentioned, could lead to a higher incidence of spontaneous abortions (14, 15).
Outcomes beyond phenylalanine: An international perspective
2010, Molecular Genetics and Metabolism
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