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School achievement in pupils with phenylketonuria
NENADÁLOVÁ, Lucie
The diploma thesis called "School Achievement in Pupils with Phenylketonuria" tries to outline the lives of people who have to face up to a hereditary metabolic disorder - phenylketonuria, subjective and objective level of school success of these individuals. The theoretical part of this thesis offers the explanation of this term, introduces its diagnostics in general, the way of treatment, the specific diet and the impact of phenylketonuria on the development of individuals. Furthermore, the theoretical part describes the school achievement in pupils with phenylketonuria, the self-view of individuals with phenylketonuria and the quality of life of these people supported by the already conducted researches. The practical part of the thesis is devoted to the case studies of individuals suffering from phenylketonuria and emphasizes their school achievement, cognitive difficulties at higher levels of phenylalanine. More generally, it follows the level of acceptance of these people to the wider environment and tries to explain how the phenylketonuria has influenced their life. The aim of this work is to map the impact of phenylketonuria on the school achievement of respondents, their inclusion in the school team and the degree of influence on their life with phenylketonuria.
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Psychical problems of people suffering from phenylketonuria
NENADÁLOVÁ, Lucie
The bachelor thesis called "The psychical problems of people suffering from phenylketonuria" attempts to introduce the life of the people who were born with phenylketonuria diagnosis. The theoretical part of this thesis implies the explanation of the term phenylketonuria, diagnostics of this disease including treatment options. Furthermore, the theoretical part deals with psychical problems associated with phenylketonuria and its impact on education and family field. In the practical part there are examined the case studies of people who suffers from this metabolic defect. The thesis observes the quality of their lives, mentions eventual mental problems they have to cope with and describes their strategies of dealing with phenylketonuria. The aim of this thesis is to examine the impact of phenylketonuria on the psyche of the individuals and the strategies of coping with this metabolic defect.
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Fenylketonurie - genetický podklad, symptomy, diagnostika a možnosti léčby
HRAŠE, David
Phenylketonuria (PKU) is an inborn error of metabolism of aromatic acids with a complete deficiency of the enzyme phenylalanine hydroxylase (or its cofactor tetrahydrobiopterin) converting the amino acid phenylalanine to tyrosine. Phenylalanine accumulates in body fluids as a result of this deficiency. Hyperphenylalaninemia causes severe physical and psychological damages to the child for several months after birth, so it is necessary to perform the neonatal screening test.
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