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Prevention of health complications in hyperphenylalaninemia - one of the most common metabolic disorders
Havrlíková, Eva ; Pazdírková, Renáta (advisor)
Phenylketonuria (PKU) is a metabolic disorder affecting the metabolism of essential aromatic amino acid phenylalanine. The mode of inheritance for PKU is autosomal recessive. Nearly all cases are caused by mutations in the gene encoding PAH and its deficiency, which has been mapped to chromosome 12. More than 500 have been identified, the most common mutation in The Czech Republic and in The Europe is R408W. The hepatic enzyme phenylalanine hydroxylase (PAH) catalyzes the conversion of phenylalanine to tyrosine. Complete enzyme deficiency results in classical PKU, in which serum phenylalanine concentration exceeds 20 mg/dL (1200 micromol/L) and levels are elevated in the urine. Residual enzyme activity causes mild PKU (phenylalanine concentration 10 to 20 mg/dL, 600 to 1200 micromol/L) and mild hyperphenylalanemia (mild HPA, phenylalanine concentration 2.5 to 10 mg/dL, 150 to 600 micromol/L). Tyrosine concentration is normal or nearly normal. Tetrahydrobiopterin (BH4) is a cofactor required for PAH activity. Defects in BH4 metabolism account for approximately 1-2 percent of patients with elevated phenylalanine levels. In untreated patients, the hallmark of the disease is mental retardation and other neurological and psychical symptoms including epilepsy, but because of widespread neonatal screening,...
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Educational material for children of pre-primary and primary age with phenylketonuria
Husová, Kristýna ; Sedlářová, Petra (advisor) ; Pazdírková, Renáta (referee)
The subject of this bachelor's thesis is the issue of phenylketonuria (PKU), a metabolic disease. The thesis is supported by theoretical background which relates to PKU. It also touches upon the knowledge of hereditary metabolic disorders and builds on the knowledge in education and psychological development of a child. A part of the work is an illustrated educational material for children with phenylketonuria between 4 to 7 years old. The publication is designed to serve families with children suffering from phenylketonuria. I chose the target group on the terms of growth of a children's prosocial behaviour, which helps them develop habits for the lifetime. The publication should support the natural selection of appropriate foods necessary for the somatic and psychosocial development of a child with PKU.
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Prevention of health complications in hyperphenylalaninemia - one of the most common metabolic disorders
Havrlíková, Eva ; Pazdírková, Renáta (advisor)
Phenylketonuria (PKU) is a metabolic disorder affecting the metabolism of essential aromatic amino acid phenylalanine. The mode of inheritance for PKU is autosomal recessive. Nearly all cases are caused by mutations in the gene encoding PAH and its deficiency, which has been mapped to chromosome 12. More than 500 have been identified, the most common mutation in The Czech Republic and in The Europe is R408W. The hepatic enzyme phenylalanine hydroxylase (PAH) catalyzes the conversion of phenylalanine to tyrosine. Complete enzyme deficiency results in classical PKU, in which serum phenylalanine concentration exceeds 20 mg/dL (1200 micromol/L) and levels are elevated in the urine. Residual enzyme activity causes mild PKU (phenylalanine concentration 10 to 20 mg/dL, 600 to 1200 micromol/L) and mild hyperphenylalanemia (mild HPA, phenylalanine concentration 2.5 to 10 mg/dL, 150 to 600 micromol/L). Tyrosine concentration is normal or nearly normal. Tetrahydrobiopterin (BH4) is a cofactor required for PAH activity. Defects in BH4 metabolism account for approximately 1-2 percent of patients with elevated phenylalanine levels. In untreated patients, the hallmark of the disease is mental retardation and other neurological and psychical symptoms including epilepsy, but because of widespread neonatal screening,...
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