Wyniki wyszukiwania - Biblioteka Nauki

1

Fenyloketonuria wybrany przykład rzadkiej choroby metabolicznej

100%

Płoszaj K. M.

Innowacje w Pielęgniarstwie i Naukach o Zdrowiu

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2022

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tom 7

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nr 4

125-139

EN

Introduction. Phenylketonuria, a metabolic disease, diagnosed late and untreated leads to severe disability. Aim. The aim of the study was to present the characteristics of phenylketonuria as a rare metabolic disease. Material and methods. The method used in the work is the analysis of literature. Overview. The essence of the disease is the lack or a significant deficit in the activity of the enzyme phenylalanine hydroxylase (PAH for short), which is produced by the liver. The deficit leads to disturbances in the transformation of phenylalanine (Phe) into tyrosine. The consequence of such a reaction is an excessive amount of the amino acid appearing in the child's serum, which ultimately leads to significant damage to the central nervous system. Conclusions. Nowadays, people suffering from Phenylketonuria have a great chance for proper intellectual development, and the disease itself does not affect the level of education or professional career. The success of screening is undoubtedly tangible, because through a quick diagnosis it gives patients a chance for a normal life.

PL

Wstęp. Fenyloketonuria, choroba metaboliczna, późno zdiagnozowana i nieleczona w odpowiedni sposób prowadzi do ciężkiego kalectwa. Cel. Celem pracy było przedstawienie charakterystyki fenyloketonurii jako rzadkiej choroby metabolicznej. Materiał i metody. Metoda zastosowana w pracy to analiza literatury. Przegląd. Istotą choroby jest brak lub znaczny deficyt aktywności enzymu hydroksylazy fenyloalaninowej (w skrócie PAH), który wytwarzany jest wątrobie. Deficyt prowadzi do zaburzeń przemiany fenyloalaniny (Phe) w tyrozynę. Konsekwencją takiej reakcji jest pojawiająca się w surowicy dziecka nadmierna ilość aminokwasu, co w ostatecznie prowadzi do znacznych uszkodzeń ośrodkowego układu nerwowego. Wnioski. W dzisiejszych czasach osoby chore na Fenyloketonurię mają ogromne szanse na prawidłowy rozwój intelektualny, a sama choroba nie ma wpływu na poziom wykształcenia czy karierę zawodową. Sukces badań przesiewowych jest niewątpliwie namacalny, gdyż poprzez szybką diagnozę daje szansę chorym pacjentom na normalne życie.

2

In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene

100%

Zekanowski C. , Perez B. , Desviat L. R. , Wiszniewski W. , Ugarte M.

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nr 2

EN

Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.

3

Kazeinomakropeptyd - właściwości technologiczne i żywieniowe

84%

Kozioł J. , Gustaw W.

Przemysł Spożywczy

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2011

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tom T. 65, nr 4

34-36

PL

Kazeinomakropeptyd (CMP) jest częścią κ-kazeiny, która jest uwalniana podczas hydrolizy za pomocą enzymów proteolitycznych. CMP występuje w mleku krowim w dwóch wariantach - A i B, różniących się składem aminokwasowym. CMP jest wykorzystywany w produkcji nowej żywności o potencjalnych właściwościach prozdrowotnych i w produktach specjalnego przeznaczenia żywieniowego. Ma zdolność wiązania toksyn, ograniczania adhezji bakterii i wirusów. CMP jest uważany za potencjalny prebiotyk. Polipeptyd ten zmniejsza wydzielanie kwasów żołądkowych. CMP nie zawiera w swoim składzie fenyloalaniny, dlatego może być źródłem białka w diecie osób chorych na fenyloketonurię.

EN

Caseinomacropeptide (CMP) is a fragment of κ-casein that is released by proteolytic enzymes. CMP occurs in bovine milk in two genetic variants, A and B, which differ with amino acid composition. In the recent years, CMP has become a subject of growing interest, due to its beneficial, biological and functional properties. CMP has ability to bind toxins and inhibit bacterial and viral adhesion. It is also considered as a prebiotic in functional foods. It significantly reduces gastric acid secretion. CMP is the only naturally occurring protein that does not contain phenylalanine; this is why it is often utilized as a source of protein for dietary management of phenylketonuria.

4

Measurement of functional independence level and falls-risk in individuals with ungiagnosed phenylketonuria

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Mazur A. , Jarochowicz S. , Oltarzewski M. , Sykut-Cegielska J. , Kwolek A. , O'Malley G.

Acta Biochimica Polonica

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2009

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tom 56

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nr 4

613-618

EN

The aim of the study was to determine the level of functional independence in adult patients with previously undiagnosed or untreated phenylketonuria (PKU). The study was conducted among 400 intellectually impaired adult residents of Social Welfare Homes in South-Eastern Poland born prior to the introduction of neonatal PKU screening programs. PKU was screened by filter paper test using tandem mass spectrometry methods, and confirmed by gas chromatography-mass spectrometric analysis of PKU organic acids in urine. Degree of functional independence included the assessment of activities of daily living (Barthel Index) and measures of balance and gait (Tinetti scale). Eleven individuals with previously untreated PKU were identified whereby eight presented with moderate disability and three with mild disability. Six had a high risk of falls and five had a moderate risk of falls. This study indicates that there is considerable number of undiagnosed PKU patients within the Polish population who require assessment and management in order to reduce the impact of the neurological and neuropsychiatric problems associated with the condition. Appropriate therapy for those with undiagnosed PKU should, in particular, address the risk of falls.

5

Haplotype analysis of phenylalanine hydroxylase alleles in Polish families with phenylketonuria

84%

Jaruzelska J. , Borski K. , Riess O. , Blin N. , Slomski R.

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1989

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tom 36

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nr 3-4

6

A quantitative bacterial micro-assay for rapid detection of serum phenylalanine in dry blood-spots: Application in phenylketonuria screening

84%

Vallian S. , Moeini H.

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2006

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tom 47

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nr 1

EN

Phenylketonuria is an inherited metabolic disease, which is characterized by increased level of serum phenylalanine (Phe). The quantitative measurement of Phe in the serum is necessary to confirm the disease, and to distinguish phenylketonuria from other forms of hyperphenylalaninemia. In this study, we report a rapid and inexpensive micro-assay for simultaneous detection and quantitative measurement of serum Phe in dry blood-spots. Analysis of the standard curve showed a broad linear Phe range of 120-1800 µmol L⁻¹. Application of this method in conjunction with the standard Guthrie bacterial inhibition assay and high-pressure liquid chromatography in analyzing 34 samples from phenylketonuria patients and control samples produced comparable results, with the regression equation of Y= 0.994X + 0.996. The advantage of this method over the Guthrie bacterial inhibition assay is its ability to measure the serum Phe quantitatively without false positive results. The method was successfully applied to dried blood-spots as well as serum and whole blood samples. The cost per sample is about 20-50 US cents, which is much less than those of high-pressure liquid chromatography and enzymatic commercial kits. The method can be automated, which is suitable for neonatal and mass phenylketonuria screening, especially in developing countries, where funding is a limiting factor.

7

The directed enzymatic casein hydrolysis

67%

Idziak J. , Moszczynski P.

Polish Journal of Food and Nutrition Sciences

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1993

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tom 02

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nr 1