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    Wyświetlanie 1-3 z 3
    Tytuł:
    Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness
    Autorzy:
    Bik-Multanowski, Miroslaw
    Kaluzny, Lukasz
    Mozrzymas, Renata
    Oltarzewski, Mariusz
    Starostecka, Ewa
    Lange, Agata
    Didycz, Bozena
    Gizewska, Maria
    Ulewicz-Filipowicz, Jolanta
    Chrobot, Agnieszka
    Mikoluc, Bozena
    Szymczakiewicz-Multanowska, Agnieszka
    Cichy, Wojciech
    Pietrzyk, Jacek
    Powiązania:
    https://bibliotekanauki.pl/articles/1039453.pdf
    Data publikacji:
    2013
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    PKU
    hyperphenylalaninemia
    inborn error of metabolism
    dietary treatment
    genetic epidemiology
    Opis:
    Tetrahydrobiopterin (BH4) has been recently approved as a treatment of patients with phenylketonuria. However, as a confirmation of BH4-responsiveness, it might require a very expensive trial treatment with BH4 or prolonged BH4-loading procedures. The selection of patients eligible for BH4-therapy by means of genotyping of the PAH gene mutations may be recommended as a complementary approach. A population-wide genotyping study was carried out in 1286 Polish phenyloketonuria-patients. The aim was to estimate the BH4 demand and to cover prospectively the treatment by a National Health Fund. A total of 95 types of mutations were identified. Genetic variants corresponding with probable BH4-responsiveness were found in 28.2% of cases. However, patients with mild or classical phenylketonuria who require continuous treatment accounted for 11.4% of the studied population only. Analysis of the published data shows similar percentage of the "BH4-responsive" variants of a PAH gene in patients from other countries of Eastern Europe. Therefore, it can be concluded, that the proportion of phenylketonuria-patients who could benefit from the use of BH4 reaches approximately 10% in the entire region.
    Źródło:
    Acta Biochimica Polonica; 2013, 60, 4; 613-616
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Dynamics of hyperphenylalaninemia and intellectual outcome in teenagers with phenylketonuria
    Autorzy:
    Didycz, Bożena
    Bik-Multanowski, Mirosław
    Powiązania:
    https://bibliotekanauki.pl/articles/1038614.pdf
    Data publikacji:
    2017
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    inborn error of metabolism
    metabolic control of PKU
    treatment adherence
    Opis:
    Insufficient treatment adherence after early childhood is frequently observed in patients with phenylketonuria. Assessment of these individuals' long-term metabolic control could enable early detection of the risk of intellectual deterioration resulting from high blood phenylalanine concentration. However, the predictive value of specific parameters related to individual dynamics of hyperphenylalaninemia is not clear. Here, we assessed the impact of blood phenylalanine fluctuations during the first 12 years of life on cognitive outcome in early and continuously treated teenagers with phenylketonuria. We have analyzed a total of 5141 results of blood phenylalanine measurements in 32 patients. The phenylalanine levels of these patients were usually acceptable during their early childhood, but the control of hyperphenylalaninemia worsened and the average treatment adherence dropped to 40% during the late primary school. Our analysis revealed a strong association between the Wechsler intelligence verbal scores and the mean of the yearly means of phenylalanine concentrations (r=-0.62). The correlations of IQ scores with median phenylalanine concentrations and the variability of blood phenylalanine levels gave weaker associations. The Wechsler verbal scores were also strongly correlated with the treatment adherence level during preschool and late primary school (r=0.61 and 0.72). The mean of the yearly means of blood phenylalanine concentrations appears to be a better predictor of cognitive outcome in children with phenylketonuria than other parameters related to phenylalanine fluctuations. The percentage of acceptable phenylalanine levels below 50-60% should be regarded as a "red flag" due to the risk of intellectual deterioration in patients.
    Źródło:
    Acta Biochimica Polonica; 2017, 64, 3; 527-531
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study
    Autorzy:
    Drzymała-Czyż, Sławomira
    Kałużny, Łukasz
    Krzyżanowska-Jankowska, Patrycja
    Walkowiak, Dariusz
    Mozrzymas, Renata
    Walkowiak, Jarosław
    Powiązania:
    https://bibliotekanauki.pl/articles/1038407.pdf
    Data publikacji:
    2018
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    phospholipids
    docosahexaenoic acid
    dietary intake
    inborn error of metabolism
    metabolic diseases
    desaturase
    Opis:
    The etiology of altered blood fatty acid (FA) profile in phenylketonuria (PKU) is understood only partially. We aimed to determine whether FAs deficiency is dependent on the diet or metabolic disturbances. The study comprised 40 PKU patients (20 female, 20 male; aged 11 to 35 years; 12 children and 28 adults) and 40 healthy subjects (HS; 20 female, 20 male, aged 18 to 33 years). We assessed the profile of FAs (gas chromatography/mass spectrometry) and analyzed the 72-hour dietary recalls. The amount of C14:0, C16:0 and C16:1n-7, C18:1n-9 did not differ between the analyzed groups. The percentage of C18:0 was higher, while C20:3n-9, C18:2n-6, C20:2n-6, C20:4n-6, C22:4n-6, C22:5n-6 and C22:6n-3 was lower in PKU than in HS. However, C18:3n-6, C18:3n-3 and n-6/n-3 ratio were higher in PKU patients. The C20:4n-6/C20:3n-6 ratio (reaction catalyzed by Δ5-desaturase), the C22:5n-6/C22:4n-6 and the C22:6n-3/C22:5n-3 ratio (both reactions catalyzed by Δ6 desaturase) were significantly lower in PKU patients. Therefore, the deficiency of long-chain polyunsaturated fatty acids in PKU patients may result not only from inadequate supply but also from metabolic disturbances.
    Źródło:
    Acta Biochimica Polonica; 2018, 65, 2; 303-308
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
      Wyświetlanie 1-3 z 3

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