Maternal phenylketonuria in Western Australia: Pregnancy outcomes and developmental outcomes in offspring

Ng, Timothy W.; Rae, Anne; Wright, Helen; Gurry, Desmond L; Wray, John

doi:10.1046/j.1440-1754.2003.00174.x

Cited by 15 publications

(7 citation statements)

References 29 publications

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“…There is emerging evidence of adverse behavioral outcomes, including externalizing behaviors, in children born to women with suboptimal PHE control during pregnancy. 55 Microcephaly is the most common fetal malformation associated with elevated maternal PHE levels during gestation. The incidence of microcephaly increases to 5-18% with achievement of control by 10 weeks gestation and steadily increases to 67% if PHE control is not achieved by 30 weeks gestation.…”

Section: Clinical Featuresmentioning

confidence: 99%

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Vockley

Andersson

Antshel

et al. 2014

Genetics in Medicine

544

443

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Phenylalanine hydroxylase (PAH) deficiency, traditionally called phenylketonuria (PKU) due to characteristic phenylketones accumulating in the urine of affected individuals, has a significant place in history as the first inborn error of metabolism identified through population-based screening, initiating a new era in the diagnosis and treatment of genetic disorders. PKU was first described in 1934 by the Norwegian physician Asbjörn Fölling, but it was not until the mid-1950s that a patient with PAH deficiency was treated with a low phenylalanine (PHE) diet. Although this first patient already had irreversible Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of affected individuals and was the first inborn error of metabolism to be identified through population screening. Early identification and treatment prevent the most dramatic clinical sequelae of the disorder, but new neurodevelopmental and psychological problems have emerged in individuals treated from birth. The additional unanticipated recognition of a toxic effect of elevated maternal phenylalanine on fetal development has added to a general call in the field for treatment for life. Two major conferences sponsored by the National Institutes of Health held >10 years apart reviewed the state of knowledge in the field of phenylalanine hydroxylase deficiency, but there are no generally accepted recommendations for therapy. The purpose of this guideline is to review the strength of the medical literature relative to the treatment of phenylalanine hydroxylase deficiency and to develop recommendations for diagnosis and therapy of this disorder. Evidence review from the original National Institutes of Health consensus conference and a recent update by the Agency for Healthcare Research and Quality was used to address key questions in the diagnosis and treatment of phenylalanine hydroxylase deficiency by a working group established by the American College of Medical Genetics and Genomics. The group met by phone and in person over the course of a year to review these reports, develop recommendations, and identify key gaps in our knowledge of this disorder.Above all, treatment of phenylalanine hydroxylase deficiency must be life long, with a goal of maintaining blood phenylalanine in the range of 120-360 µmol/l. Treatment has predominantly been dietary manipulation, and use of low protein and phenylalanine medical foods is likely to remain a major component of therapy for the immediate future. Pharmacotherapy for phenylalanine hydroxylase deficiency is in early stages with one approved medication (sapropterin, a derivative of the natural cofactor of phenylalanine hydroxylase) and others under development. Eventually, treatment of phenylalanine hydroxylase deficiency will be individualized with multiple medications and alternative medical foods available to tailor therapy. The primary goal of therapy should be to lower blood phenylalanine, and any interventions, including medica...

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Section: Clinical Featuresmentioning

confidence: 99%

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Vockley

Andersson

Antshel

et al. 2014

Genetics in Medicine

544

443

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“…Significant planning is required for pregnancies for women with phenylketonuria (PKU) as elevated levels of blood phenylalanine (Phe) during pregnancy causes negative birth outcomes such as pregnancy losses, congenital heart disease, and other developmental problems such as intellectual disability [18], [25]. These adverse outcomes are common, for example Lenke and Levy [14] reported that in women with Phe levels > 20 mg per decilitre, 73% had microcephaly and 92% of children had intellectual disabilities.…”

Section: Introductionmentioning

confidence: 99%

Promoting psychological well-being in women with phenylketonuria: Pregnancy-related stresses, coping strategies and supports

Roberts

Müller

Sweeney

et al. 2014

Molecular Genetics and Metabolism Reports

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ObjectiveTo explore the pregnancy-related stresses anticipated and experienced by women with phenylketonuria (PKU) and the coping strategies and supports utilised or anticipated to be beneficial during pregnancy.MethodsThematic analysis of interview data from eight women with PKU in a cross-sectional, qualitative study. Five of the participants had never had a pregnancy but were planning to in the future, two participants had children, and one participant was pregnant.ResultsThe central concern regarding pregnancy was achieving and maintaining the essential low Phe levels, in the context of the devastating effects of high levels. The Transactional Model of Stress and Coping was utilised to understand the coping strategies and supports utilised or anticipated to be beneficial during pregnancy. Similarities and differences between the women who had experienced pregnancy, and those who were planning a pregnancy in the future were evident in key coping strategies, with knowledge seeking, positive reappraisal, and reassurance seeking reported. Support from health professionals and other mothers with PKU was key for all women. Psychological support was identified as a resource perceived to be beneficial to promote psychological well-being during pregnancy but not yet provided.ConclusionPregnancy is associated with significant stresses for women with PKU. Clinical implications of the findings include provision of psychological support.

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“…In WA, babies born to mothers with PKU were tracked over a 9‐year period 6 . Thirty pregnancies resulted in 16 live births for nine women, with no congenital abnormalities recorded, although there was some evidence of behavioural problems among children where metabolic control was poor during pregnancy.…”

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confidence: 99%