Fifty years of phenylketonuria newborn screening — A great success for many, but what about the rest?

Grošelj, Urh; Tanšek, Mojca Žerjav; Battelino, Tadej

doi:10.1016/j.ymgme.2014.07.019

Cited by 35 publications

(27 citation statements)

References 21 publications

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“…AFS.2016.2.22 cofactor responders. The risk for neurocognitive or psychological symptoms in PKU is related to age-ofonset of therapy, lifelong phenylalanine levels, and adherence to treatment (Blau et al, 2010;Folling, 1934;Groselj et al, 2014;Vockley et al, 2014). The literature on early and continuously-treated PKU states that intelligence in patients with optimally treated PKU is comparable to the average population (Moyle et al, 2007;Vockley et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

Phenylketonuria is not a risk factor for changes of inflammation status as assessed by interleukin 6 and interleukin 8 concentrations

Mozrzymas¹,

Duś-Żuchowska

Kałużny

et al. 2016

Acta Sci Pol Technol Aliment

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Since Folling's discovery of "imbecillitas phenylpyruvica" in 1934, knowledge of the nature of phenylketonuria (PKU) has broadened. In untreated patients, an accumulation of phenylalanine and its metabolites results in toxic damage of central nervous system due to an impairment of phenylalanine hydroxylase (PAH) activity. Through early diagnosis with neonatal screening, PKU might be eff ectively treated by a lowphenylalanine diet and/or tetrahydrobiopterin (sapropterin dihydrochloride, BH4) supplementation for PAH PHENYLKETONURIA IS NOT A RISK FACTOR FOR CHANGES OF INFLAMMATION STATUS AS ASSESSED BY INTERLEUKIN 6 AND INTERLEUKIN 8 CONCENTRATIONS ABSTRACTBackground. High oxidative stress and a reduced potential for free radical scavenging in phenylketonuria (PKU) patients, a phenomenon confi rmed in a few studies, may lead to systemic chronic infl ammation. The aim of this study was to compare the infl ammation status, as assessed by interleukin 6 and interleukin 8 concentrations, in patients with PKU and in healthy controls. Material and methods. Twenty patients with classical PKU, aged 18-34 years and under dietary control, were enrolled in the study. The control group comprised of 20 healthy subjects matched for age and sex. Interleukin 6 and 8 levels were measured by enzyme-linked immunosorbent assay (ELISA) kits in all study participants. Results. IL-6 concentrations in the study group ranged from 0.74 pg/ml to 1.34 pg/ml. No signifi cant differences were found between IL-6 concentration between the study group and the control group (p = 0.989). IL-8 concentrations ranged from 17.56 pg/ml to 20.87 pg/ml. The obtained results of IL-8 levels did not diff er signifi cantly between the study group and control group (p = 0.192). No signifi cant correlation was observed between Phe blood levels and IL-6 or IL-8 concentrations in the study group (ρ respectively: -0.225, 0.177). In a multivariate analysis, neither IL-6 nor IL-8 concentrations were correlated with sex, age, BMI and Phe levels. Conclusions. Phenylketonuria is not a risk factor for changes of infl ammation status as assessed by IL-6 and IL-8 concentrations.

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Section: Introductionmentioning

confidence: 99%

Phenylketonuria is not a risk factor for changes of inflammation status as assessed by interleukin 6 and interleukin 8 concentrations

Mozrzymas¹,

Duś-Żuchowska

Kałużny

et al. 2016

Acta Sci Pol Technol Aliment

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“…PKU was the first genetic disorder that underwent newborn screening [13,14]. Most cases of PKU are caused by mutations in the gene in coding for phenylalanine hydroxylase.…”

Section: Casementioning

confidence: 99%

Forensic Pathology and Newborn Screening for Inborn Errors of Metabolism: Implications for the Middle East

Seulieman¹,

Rasool²,

Al-Ali³

et al. 2016

AJFSFM

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We report the postmortem findings of two infants and one child who died in Iraq. In each case, a specific clinical diagnosis was never established and all died at home. None of the cases had undergone newborn screening tests for inherited diseases.In case 1, a 3-day old neonate died without ever passing meconium. Autopsy revealed complete small intestinal obstruction due to meconium ileus. This was most likely due to cystic fibrosis. In case 2, a 6 month old boy died suddenly and unexpectedly after developing dehydration from vomiting. Autopsy revealed marked hepatomegaly with fatty infiltration that also involved the myocardium and kidney.

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“…Neonatal newborn mass-screening of this disorder allows early diagnosis and consequently a better and earlier dietary management leading to a normal development of PKU children (Groselj et al 2014). In some countries, Pherestricted treatment was generally not maintained over the second decade of life, after the development period (de Baulny et al 2007).…”

Section: Introductionmentioning

confidence: 99%

Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria

et al. 2017

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Background: Several studies have highlighted disturbance of redox homeostasis in patients with phenylketonuria (PKU) which may be associated with neurological disorders observed in patients, especially during adulthood when phenylalanine restrictive diets are not maintained. The aim of this study was to assess the antioxidant profile in a cohort of PKU patients in comparison to the controls and to evaluate its relation to biochemical parameters especially phenylalaninemia. Methods:We measured RNA expression of 22 antioxidant genes and reactive oxygen species (ROS) levels in white blood cells of 10 PKU patients and 10 age-and gendermatched controls. We also assessed plasma amino acids, vitamins, oligo-elements, and urinary organic acids concentrations. Then we evaluated the relationship between redox status and biochemical parameters. Results: In addition to expected biochemical disturbances, we highlighted a significant global decrease of antioxidant genes expression in PKU patients in comparison to the controls. This global decrease of antioxidant genes expression, including various isoforms of peroxiredoxins, glutaredoxins, glutathione peroxidases, and superoxide dismutases, was significantly correlated to hyperphenylalaninemia. Conclusion: This study is the first to evaluate the expression of 22 antioxidant genes in white blood cells regarding biochemical parameters in PKU. These findings highlight the association of hyperphenylalaninemia with antioxidant genes expression. New experiments to specify the role of oxidative stress in PKU pathogenesis may be useful in suggesting new recommendations in PKU management and new therapeutic trials based on antioxidant defenses.

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Fifty years of phenylketonuria newborn screening — A great success for many, but what about the rest?

Cited by 35 publications

References 21 publications

Phenylketonuria is not a risk factor for changes of inflammation status as assessed by interleukin 6 and interleukin 8 concentrations

Phenylketonuria is not a risk factor for changes of inflammation status as assessed by interleukin 6 and interleukin 8 concentrations

Forensic Pathology and Newborn Screening for Inborn Errors of Metabolism: Implications for the Middle East

Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria

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