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• W27942679 abstract "Phenylketonuria (OMIM 261600) is a congenital genetically conditioned error of metabolism phenylalanine to tyrosine. Being untreated or insufficiently treated phenylketonuria (PKU) sometimes leads to irreversible damage of mielin. Similarly, high phenylalanine concentration in the blood of pregnant woman with PKU exert the teratogenic effect on growing and developing foetus (in the majority of cases being the carrier of PKU), which leads to appearance of maternal phenylketonuria syndrom (MPKU syndrom). The features of MPKU syndrome consist: low weight at birth, the congenital heart defects, digestive tract defects, osseous arrangements, microcephaly, handicap of intellectual development. Spontaneous miscarriages at pregnant women with PKU are more often.the evaluation of influence hyperphenylalaninemia of pregnant woman with PKU on her foetus, depending on the metabolic control in the pre- and postconception period.under the care of Outpatient Metabolic Clinic of University Children's Hospital in Cracow remain 430 patients aged from 0 to 56 years with hyperphenylalaninemia. In the register of Outpatient Metabolic Clinic there are the data about 50 pregnancies of 21 women with hyperphylalaninemia (from mild hyperphenylalaninemia to classic PKU). Only 10 pregnancies were planned - the low-phenylalanine diet was obligatory introduced 3 months before conception and was applied throughout the whole period of pregnancy in order to maintain the levels of phenylalanine in the range of 2 to 6 mg/dl. One pregnancy finished with spontaneous miscarriage, the other 9- the birth of healthy offspring. By contrast, out of 40 unplanned pregnancies 8 ended in spontaneous miscarriage, and of the remaining 32 unplanned pregnancies 33 children were born: 24 (75%) newborns with the maternal PKU features, 1 child died during thel-st year of life, 3 have the lack of any data, and only 5 (15.6%) children were born clinically healthy (1 twin birth). Among the children with maternal PKU syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the anal atresia in 1 child. Among the children, born from unplanned pregnancies, there are two (twins), whose mother from the 6 week of gestation had returned to applying diet (average phe levels 6.37 mg/dl); two children of mothers who were conducting the therapeutic implemented since 18-th and 32-th weeks of gestation (average phe 7.5 mg/dl) (there is the lack of detailed data about these children, because the women are never reported to our Outpatient Clinic), and one child, whose mother raised and began the therapy from 12-th week of gestation (average phe levels 10.37 mg/dl), who presents the features of ADHD syndrome.1. All pregnancies of women with hyperphenylalaninemia should be planned to avoid the complications in the form of maternal PKU syndrom. 2. It is essential to educate the women with PKU and their families about the problems concerning maternal PKU. 3. It is also necessary to inform pediatricians, family physicians and gynaecologists-obstetricians about the features of maternal PKU syndrom." @default.
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• W27942679 date "2009-01-01" @default.
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• W27942679 title "[The maternal phenylketonuria syndrom--still current problem]." @default.
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