Undiagnosed maternal phenylketonuria: The need for prenatal selective screening or case finding

Hanley, William; Platt, Lawrence D.; Bachman, Ronald; Buist, Neil R. M.; Geraghty, Michael T.; Isaacs, Janet Sugarman; O'Flynn, Margaret E.; Rhead, William J.; Seidlitz, G; Tishler, Bluma

doi:10.1016/s0002-9378(99)70671-x

Cited by 21 publications

(4 citation statements)

References 17 publications

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“…In most other reports, biological data are expressed as ''weeks to achieve diet control'' [6,11,13]. Because of the fluctuation of Phe levels, the average of the number of Phe monitorings seems to us a better marker than the date when dietary control is achieved.…”

Section: Discussionmentioning

confidence: 99%

Maternal phenylketonuria: the French survey

et al. 2004

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Section: Discussionmentioning

confidence: 99%

Maternal phenylketonuria: the French survey

et al. 2004

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“…It is necessary to identify, counsel, and treat every mother with HPA during her pregnancy. Otherwise the prevalence of HPAassociated mental retardation will rebound to the levels existing in the population before newborn screening became a universal practice [Scriver, 1967;Kirkman, 1992;Hanley et al, 1999]. Maternal HPA also contributes to the incidence of congenital heart disease [Levy et al, 2001].…”

Section: Maternal Hpamentioning

confidence: 99%

ThePAH gene, phenylketonuria, and a paradigm shift

2007

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“Inborn errors of metabolism,” first recognized 100 years ago by Garrod, were seen as transforming evidence for chemical and biological individuality. Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype, was identified in 1934 by Asbjörn Fölling. It is a disease with impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia (HPA). Its metabolic phenotype is accountable to multifactorial origins both in nurture, where the normal nutritional experience introduces L‐phenylalanine, and in nature, where mutations (>500 alleles) occur in the phenylalanine hydroxylase gene (PAH) on chromosome 12q23.2 encoding the L‐phenylalanine hydroxylase enzyme (EC 1.14.16.1). The PAH enzyme converts phenylalanine to tyrosine in the presence of molecular oxygen and catalytic amounts of tetrahydrobiopterin (BH4), its nonprotein cofactor. PKU is among the first of the human genetic diseases to enter, through newborn screening, the domain of public health, and to show a treatment effect. This effect caused a paradigm shift in attitudes about genetic disease. The PKU story contains many messages, including: a framework on which to appreciate the complexity of PKU in which phenotype reflects both locus‐specific and genomic components; what the human PAH gene tells us about human population genetics and evolution of modern humans; and how our interest in PKU is served by a locus‐specific mutation database (http://www.pahdb.mcgill.ca; last accessed 20 March 2007). The individual Mendelian PKU phenotype has no “simple” or single explanation; every patient has her/his own complex PKU phenotype and will be treated accordingly. Knowledge about PKU reveals genomic components of both disease and health. Hum Mutat 28(9), 831–845, 2007. Published 2007 Wiley‐Liss, Inc.

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“…Although the condition is well known, it remains a problem, particularly in women born in countries without neonatal screening programs. However, the incidence of undiagnosed maternal PKU is currently estimated at 1 case per 100,000 births or even higher in Europe and the US [Hanley et al, 1999]. …”

Section: Resultsmentioning

confidence: 99%

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

et al. 2005

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Background: Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus. The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly and mental retardation.

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Undiagnosed maternal phenylketonuria: The need for prenatal selective screening or case finding

Cited by 21 publications

References 17 publications

Maternal phenylketonuria: the French survey

Maternal phenylketonuria: the French survey

ThePAH gene, phenylketonuria, and a paradigm shift

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

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