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Phenylketonuria and Maternal Phenylketonuria
2017Abstract This chapter discusses phenylketonuria and maternal phenylketonuria, including the links between phenylalanine embryopathy and maternal phenylketonuria and biochemical abnormalities. Factors to be considered in nutritional evaluation are discussed, including specific nutrients, and components of the diet.
Susan A. Berry +2 more
exaly +2 more sources
Biodemography and Social Biology, 1985
Prir to newborn screening and the availability of dietary treatment for phenylketonuria, most patients with classic phenylketonuria developed profound mental retardation and rarely reproduced. Newborn Screening for phenylketonuria has been routinely available throughout the United States for approximately 20 years.
L M, Barnico, M M, Cullinane
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Prir to newborn screening and the availability of dietary treatment for phenylketonuria, most patients with classic phenylketonuria developed profound mental retardation and rarely reproduced. Newborn Screening for phenylketonuria has been routinely available throughout the United States for approximately 20 years.
L M, Barnico, M M, Cullinane
+7 more sources
Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature [PDF]
NutrientsAnnamaria Sapuppo +2 more
exaly +2 more sources
Obstetrical & Gynecological Survey, 1986
AbstractPregnant women with untreated phenylketonuria (PKU) with blood phenylalanine levels greater than 1200 µmol/L usually give birth to offspring with congenital birth defects, including microcephaly, cardiac defects and mental retardation. According to Mabry and Levy, hyperphenylalaninaemic (HPA) women with blood phenylalanine levels between 600 ...
R, Koch +5 more
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AbstractPregnant women with untreated phenylketonuria (PKU) with blood phenylalanine levels greater than 1200 µmol/L usually give birth to offspring with congenital birth defects, including microcephaly, cardiac defects and mental retardation. According to Mabry and Levy, hyperphenylalaninaemic (HPA) women with blood phenylalanine levels between 600 ...
R, Koch +5 more
openaire +2 more sources
Enzyme, 2017
Maternal phenylketonuria (PKU) refers to fetal damage from PKU in the pregnant woman. The progeny from such pregnancies are almost always microcéphalie and mentally subnormal and have an increased frequency of congenital heart disease and low birth weight.
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Maternal phenylketonuria (PKU) refers to fetal damage from PKU in the pregnant woman. The progeny from such pregnancies are almost always microcéphalie and mentally subnormal and have an increased frequency of congenital heart disease and low birth weight.
+5 more sources
Pediatrics, 2001
Elevated maternal phenylalanine levels during pregnancy are teratogenic and may result in growth retardation, significant psychomotor handicaps, and birth defects in the offspring of unmonitored and untreated pregnancies. Women of childbearing age with all forms of phenylketonuria, including mild variants such as hyperphenylalaninemia, should receive ...
J M, Matthieu, O, Boulat, N, Bianchi
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Elevated maternal phenylalanine levels during pregnancy are teratogenic and may result in growth retardation, significant psychomotor handicaps, and birth defects in the offspring of unmonitored and untreated pregnancies. Women of childbearing age with all forms of phenylketonuria, including mild variants such as hyperphenylalaninemia, should receive ...
J M, Matthieu, O, Boulat, N, Bianchi
openaire +3 more sources
The problem of maternal phenylketonuria
American Journal of Obstetrics and Gynecology, 1972Abstract Mentally retarded non-phenylketonuric offspring from untreated phenylketonuric mothers have been reported upon by a number of groups. To this list we add some additional cases. These offspring commonly have lower I.Q's than their mothers. It is reasonable to postulate that the high concentrations of phenylalanine or its metabolites in the ...
R A, MacCready, H L, Levy
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Maternal Phenylketonuria — the Irish Experience
Journal of Inherited Metabolic Disease, 1990SummaryThe outcome of 48 pregnancies in 18 women with elevated phenylalanine was studied. The women were divided into two groups, diet and non‐diet. All the women on diet had severe hyperphenylalaninaemia and only six were on the amino acid mixture at conception.
E, Naughten, I P, Saul
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The Journal of Pediatrics, 1969
Maternal phenylketonuria is likely to have damaging effects on the offspring. Intrauterine growth retardation, postnatal growth retardation, microcephaly, mental retardation, congenital malformations in the infant, and spontaneous abortions in the mother suggest the possibility of maternal phenylketonuria even if the mother is of normal intelligence.
John H. Menkes, Ernesto Aeberhard
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Maternal phenylketonuria is likely to have damaging effects on the offspring. Intrauterine growth retardation, postnatal growth retardation, microcephaly, mental retardation, congenital malformations in the infant, and spontaneous abortions in the mother suggest the possibility of maternal phenylketonuria even if the mother is of normal intelligence.
John H. Menkes, Ernesto Aeberhard
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Phenylketonuria And Maternal Phenylketonuria
2005Abstract Phenylketonuria (PKU) may be the most thoroughly studied inherited metabolic disorder, a disorder in which the consequences can be multigenerational and can have significantly different outcomes. A neonate may be born with PKU or may be an offspring of a woman with maternal phenylketonuria (MPKU).
Melanie Hunt +3 more
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