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Maternal Phenylketonuria and Tetrahydrobiopterin
Pediatrics, 2008Untreated maternal phenylketonuria (PKU) results in a significant occurrence of microcephaly and congenital heart disease in the offspring. Before the documentation of this fact by Lenke and Levy1 in 1980, there was confusion as to the occurrence of these abnormalities.
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Postgraduate medical journal, 1990
The exact mechanism of fetal damage in maternal phenylketonuria (PKU) is uncertain and although the fetus is heterozygotic for the gene coding for phenylalanine hydroxylase its immature hepatic enzyme system may be the reason for its inability to deal adequately with transplacental phenylalanine uptake. Several aspects of the management of maternal PKU
D. P. Brenton, M. E. Haseler
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The exact mechanism of fetal damage in maternal phenylketonuria (PKU) is uncertain and although the fetus is heterozygotic for the gene coding for phenylalanine hydroxylase its immature hepatic enzyme system may be the reason for its inability to deal adequately with transplacental phenylalanine uptake. Several aspects of the management of maternal PKU
D. P. Brenton, M. E. Haseler
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Padiatrie und Padologie, 1984
We report about the child of a mother with phenylketonuria, which is not suffering from PKU, but is microcephalic and mentally retarded. This retardation is probably a sequel of an intrauterine Hyper-Phenylalanine-status. It is supposed that an intrauterine damage of the offspring even in cases with low Phenylalanine-levels of the mother is possible.
O, Rittinger, E, Plöchl, E, Jarosch
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We report about the child of a mother with phenylketonuria, which is not suffering from PKU, but is microcephalic and mentally retarded. This retardation is probably a sequel of an intrauterine Hyper-Phenylalanine-status. It is supposed that an intrauterine damage of the offspring even in cases with low Phenylalanine-levels of the mother is possible.
O, Rittinger, E, Plöchl, E, Jarosch
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Phenylketonuria and maternal phenylketonuria.
Breastfeeding review : professional publication of the Nursing Mothers' Association of Australia, 2001Phenylketonuria is a genetic disease affecting 1:10,000 to 14,000 live births. In NSW there is an average of nine cases diagnosed each year (Dietitians Working Party 1996). This paper discusses the management of phenylketonuria, and in particular the value of breastfeeding, complemented with a low phenylalanine infant formula, in facilitating easier ...
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Pediatrics, 1991
Prior to newborn screening and the availability of dietary treatment for phenylketonuria, most patients with classic phenylketonuria developed profound mental retardation and rarely reproduced.1,2 Newborn screening for phenylketonuria has been routinely available throughout the United States for approximately 25 years.
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Prior to newborn screening and the availability of dietary treatment for phenylketonuria, most patients with classic phenylketonuria developed profound mental retardation and rarely reproduced.1,2 Newborn screening for phenylketonuria has been routinely available throughout the United States for approximately 25 years.
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THE PROBLEM OF MATERNAL PHENYLKETONURIA
Journal of Paediatrics and Child Health, 1974D, Pitt, J, Gooch
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Undiagnosed maternal phenylketonuria: The need for prenatal selective screening or case finding
American Journal of Obstetrics and Gynecology, 1999William J Rhead, W B Hanley, L D Platt
exaly