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Wyszukujesz frazę "inborn error of metabolism" wg kryterium: Temat


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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