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Methylome Repatterning in a Mouse Model of Maternal PKU Syndrome
Molecular Genetics and Metabolism, 2014Maternal PKU Syndrome (MPKU) is an embryopathy resulting from in utero phenylalanine (PHE) toxicity secondary to maternal phenylalanine hydroxylase deficient phenylketonuria (PKU). Clinical phenotypes in MPKU include mental retardation, microcephaly, in utero growth restriction, and congenital heart defects.
James Lyons-Weiler
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Phenylketonuria: screening, treatment and maternal PKU
Clinical Biochemistry, 1991Phenylketonuria (PKU) has become a paradigm of a disease that can be identified by screening in the newborn period and treated to prevent serious complications. After many years of experience treating PKU, new challenges have emerged. It has become apparent that defective activity of phenylalanine hydroxylase leads to a spectrum of clinical ...
R, Matalon, K, Michals
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Outcome at Age 4 Years in Offspring of Women With Maternal Phenylketonuria: The Maternal PKU Collaborative Study [PDF]
JAMA - Journal of the American Medical Association, 2000 Untreated maternal phenylketonuria (PKU) increases risk for developmental problems in offspring. The extent to which this risk is reduced by maternal dietary therapy at various stages of pregnancy is not known.To determine whether dietary treatment during pregnancy of women with PKU affects developmental outcomes of offspring.The Maternal PKU ...
Susan E Waisbren, B Rouse, W Hanley
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Maternal PKU: Strategies for Dietary Treatment and Monitoring Compliance
Annals of the New York Academy of Sciences, 1986Blood phenylalanine and the metabolites of phenylalanine can be dramatically lowered in pregnant PKU mothers. Special formulas and a strict protocol should be used to achieve diet control and adequate compliance. Levels of blood phenylalanine of 4 mg/dl and lower can be achieved and are preferable to higher levels.
R, Matalon, K, Michals, L, Gleason
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Efficacy and Safety of Sapropterin Before and During Pregnancy: Final Analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) Maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs Sub-Registries [PDF]
Journal of Inherited Metabolic DiseaseInfants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy.
Friedrich Trefz +2 more
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Historical Background for the Maternal PKU Syndrome
Pediatrics, 2003Objective. To provide information on the history of maternal phenylketonuria.Methods. A review of the literature and personal observations were conducted.Results. Compilation of sequential information about the development of our understanding of maternal PKU was produced.Conclusions.
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Journal of Inherited Metabolic Disease, 1993
SummaryMaternal phenylketonuria, PKU, has a detrimental effect on embryogenesis. Infant pathology is independent of fetal genotype, but is directly correlated with excessive phenylalaninaemia throughout pregnancy. Although normal children have been delivered by affected mothers who either had benign hyperphenylalaninaemia or in whom strict diet has ...
R O, Fisch, G, Tagatz, J P, Stassart
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SummaryMaternal phenylketonuria, PKU, has a detrimental effect on embryogenesis. Infant pathology is independent of fetal genotype, but is directly correlated with excessive phenylalaninaemia throughout pregnancy. Although normal children have been delivered by affected mothers who either had benign hyperphenylalaninaemia or in whom strict diet has ...
R O, Fisch, G, Tagatz, J P, Stassart
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Congenital heart disease in maternal PKU
Molecular Genetics and Metabolism, 2012Article history: Received 21 September 2012 Received in revised form 25 September 2012 Accepted 25 September 2012 Available online 12 October 2012 12% or, conversely, what protects the 88% from developing congenital heart disease? In this issue of Molecular Genetics and Metabolism Seagraves and McBride describe studies of cardiac teratogenicity in ...
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Abnormal Cerebral Cortical Neurons in a Child With Maternal PKU Syndrome
Journal of Child Neurology, 1987A child born to a phenylketonuric (PKU) woman not on dietary treatment was microcephalic and had congenital heart and other physical anomalies consistent with the maternal PKU syndrome. After a repeat cardiac catherization at 3 months of age, he suffered an embolic left cerebral infarct and seizures.
D J, Lacey, K, Terplan
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Experimental Research on a New Treatment for Maternal Phenylketonuria(PKU)
1993More girls with phenylketonuria (PKU) enter childbearing ages, and most such women are mentally normal, having been born since newborn screening was initiated in the 1970s and treated from early infancy with a low phenylalanine (Phe) diet. Women with PKU not treated prior to conception can have a pregnancy that results in serious fetal damage1 ...
T, Imamura +5 more
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