Generation n + 1: Projected numbers of babies born to women with PKU compared to babies with PKU in the United States in 2009

Resta, Robert G.

doi:10.1002/ajmg.a.35312

Cited by 15 publications

(7 citation statements)

References 35 publications

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“…This unequal distribution could be the result of the population difference between the United States and Canada and most likely reflects the fact the United States has a 10-fold larger population 37,38 and a somewhat higher reported incidence of PKU 39 (1:10,000-1:20,000) than Canada 22,40 (1:15,000-1:22,000), resulting in a difference of 400 infants with PKU born in the United States each year versus only 26 infants with PKU in Canada. In addition, there was the difference in the announcement of the study in the United States and Canada.…”

Section: Discussionmentioning

confidence: 99%

Breastfeeding Infants with Phenylketonuria in the United States and Canada

Banta-Wright

Press

Knafl

et al. 2014

Breastfeeding Medicine

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Objective: This study described the prevalence and duration of mothers' breastfeeding infants with phenylketonuria (PKU) and explored factors related to duration of breastfeeding as a surrogate for breastfeeding success. Subjects and Methods: Descriptive analysis as performed from an international Internet survey of mothers (n = 103) who met the inclusion criteria: (1) at least 21 years of age, (2) able to read and write in English, (3) child with PKU, and (4) living in the United States or Canada. Results: Of the 103 mothers, 89 (86%) initiated breastfeeding immediately following delivery, whereas 14 (14%) chose bottle feeding. In comparison to breastfeeding after delivery, significantly fewer mothers breastfed after diagnosis (McNemar's v 2 = 30.33, p < 0.001; n = 72 vs. n = 89). Breastfeeding duration ranged from less than 1 month to 24 months with one modal duration category (n = 20, 22%) at less than 1 month. The timing of the addition of commercial infant formula to supplement breastfeeding or expressed mothers' milk was associated with a shorter duration of breastfeeding among infants with PKU: v 2 (42, n = 73) = 88.13, p < 0.001. Conclusions: PKU is treated with phenylalanine (Phe) restriction. Breastfeeding infants with PKU is challenging in part because Phe intake is difficult to determine precisely. We studied breastfeeding duration in infants with PKU and factors associated with success. Further research should identify the unique needs of mothers' breastfeeding infants with PKU to guide the development of interventions specific to these mothers to support their efforts to continue breastfeeding after the diagnosis of PKU.

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Section: Discussionmentioning

confidence: 99%

Breastfeeding Infants with Phenylketonuria in the United States and Canada

Banta-Wright

Press

Knafl

et al. 2014

Breastfeeding Medicine

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“…Current guidelines recommend life-long treatment and medical attention to obtain the best possible neurologic outcome and to avoid comorbidities [ 10 – 12 ]. In addition, with an increasing number of PKU patients reaching reproductive age, the prevention of maternal PKU syndrome, a severe embryopathy affecting the unborn child of insufficiently controlled PKU mothers, is of increasing importance [ 13 ].…”

Section: Introductionmentioning

confidence: 99%

Ten years of specialized adult care for phenylketonuria – a single-centre experience

Mütze

Thiele

Baerwald

et al. 2016

Orphanet J Rare Dis

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BackgroundSpecialized adult care of phenylketonuria (PKU) patients is of increasing importance. Adult outpatient clinics for inherited errors of metabolism can help to achieve this task, but experience is limited. Ten years after establishment of a coordinated transition process and specialised adult care for inherited metabolic diseases, adult PKU care was evaluated with respect to metabolic control, therapy satisfaction, life satisfaction, sociodemographic data, economical welfare as well as pregnancy outcome.MethodsAll PKU patients transferred from paediatric to adult care between 2005 and 2015 were identified. A retrospective data analysis and a cross-sectional survey in a sub-cohort of 30 patients including a questionnaire for assessing quality of life (FLZm) were performed as a single-centre investigation at the metabolic department of the University Hospital Leipzig, Germany. For statistical analysis, Mann-Whitney-U-test, t-test for independent samples, ANOVA and chi square test were used as appropriate.Results96 PKU patients (56 females/40 males; median age 32 years, range 18–62) were included. In the last 3-year period, 81 % of the transferred patients still kept contact to the adult care centre. Metabolic control was stable over the evaluation period and dried blood phenylalanine concentrations mostly remained within the therapeutic range (median 673.0 μmol/l, range 213.0–1381.1). Sociodemographic data, economical welfare and life satisfaction data were comparable to data from the general population. However, differences could be revealed when splitting the cohort according to time of diagnosis and to management during childhood. 83 % of the PKU adults were satisfied with the transition process and current adult care. 25 completed pregnancies were supervised; three newborns, born after unplanned pregnancy, showed characteristic symptoms of maternal PKU syndrome.ConclusionsContinuous care for adult PKU patients in a specialized outpatient clinic is successful, leading to good to satisfactory metabolic control and social outcomes. Uninterrupted good metabolic treatment throughout childhood and adolescence positively influences educational, professional and economic success in later life. Further effort in specialized paediatric and adult metabolic care is needed to prevent loss of follow-up and to support the recommended life-long treatment and/or care.

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“…However, the success rate of pregnant women achieving this goal by 8 weeks is estimated to be only 50%. MPKU is now becoming a significant public health problem threatening to undermine the success of newborn screening for PKU, as the number of babies born to mothers with PKU is now estimated to equal the number of babies born affected with PKU [16]. …”

Section: Introductionmentioning

confidence: 99%

Cardiac teratogenicity in mouse maternal phenylketonuria: Defining phenotype parameters and genetic background influences

Seagraves

McBride

2012

Molecular Genetics and Metabolism

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Maternal phenylketonuria (MPKU) is a syndrome including cardiovascular malformations (CVMs), microcephaly, intellectual impairment, and small for gestational age, caused by in-utero exposure to elevated serum phenylalanine (Phe) due to PKU in the mother. It is becoming a public health concern as more women with PKU reach child bearing age. Although a mouse model of PKU, BTBR Pahenu2, has been available for 20 years, it has not been well utilized for studying MPKU. We used this model to delineate critical parameters in Phe cardiovascular teratogenicity and study the effect of genetic background. Dosing and timing experiments were performed with the BTBR Pahenu2 mouse. A dose response curve was noted, with CVM rates at maternal serum Phe levels <360 μM (control), 360 – 600 μM (low), 600 – 900 μM (mid), and >900μM (high) of 11.86%, 16.67%, 30.86%, and 46.67% respectively. A variety of CVMs were noted on the BTBR background, including double outlet right ventricle (DORV), aortic arch artery (AAA)abnormalities, and ventricular septal defects (VSDs). Timed exposure experiments identified a teratogenic window from embryonic day 8.5-13.5, with higher rates of conotruncal and valve defects occurring in early exposure time and persistent truncus arteriosus (PTA) and aortic arch branching abnormalities occurring with late exposure. Compared to the BTBR strain, N10+ Pahenu2 congenics on the C3H/HeJ background had higher rates of CVMs in general and propensity to left ventricular outflow tract (LVOT) malformations, while the C57B/L6 background had similar CVM rates but predominately AAA abnormalities. We have delineated key parameters of Phe cardiovascular teratogenicity, demonstrated the utility of this MPKU model on different mouse strains, and shown how genetic background profoundly affects the phenotype.

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Generation n + 1: Projected numbers of babies born to women with PKU compared to babies with PKU in the United States in 2009

Cited by 15 publications

References 35 publications

Breastfeeding Infants with Phenylketonuria in the United States and Canada

Breastfeeding Infants with Phenylketonuria in the United States and Canada

Ten years of specialized adult care for phenylketonuria – a single-centre experience

Cardiac teratogenicity in mouse maternal phenylketonuria: Defining phenotype parameters and genetic background influences

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