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Influence of phenylketonuria on osteopenia
Tůmová, Linda ; Hučko, Boris (advisor) ; Adéla, Adéla (referee)
The Masters thesis deals with The influence of external factors on bone loss in patients with phenylketonuria. The phenylketonuria is relatively rare disease, but it is one of the most common inherited metabolic diseases, with the incidence of 1:10000 newborns in Europe. It is an autosomal recessive disease, caused by the deficiency or low activity of the enzyme phenylalanine hydroxylase in liver. This enzyme catalyzes the hydroxylation of phenylalanine to tyrosine in the presence of cofactor tetrahydrobiopterin. Mutations in the gene for this enzyme (previously described more than 800 mutations) or in the gene for the cofactor (2% of cases) results when received normal diet, a large amount of unprocessed phenylalanine can accumulate in the blood and other bodily fluids while the levels of tyrosine and its metabolites are low. This situation leads to severe mental retardation, eczema, microcephaly, growth retardation, physical disability, psychiatric problems, etc. Due to the fact that mental retardation is usually irreversible, testing and early diagnosis is crucial when it comes to this disease. Because of the severity of the disease, a mandatory screening test for newborns was implemented in the Czech Republic in 1975, followed by a treatment diet, that consists of a strict restriction of protein and supplementation of amino acid preparations without phenylalanin. One of the chronic problems connected to this illness are decreased bone density in children and adults with PKU. Although the underlying cause of osteopenia in phenylketonuria has not yet been elucidated, it is a consequence of several factors.
Using the questionnaire, my data was evaluated for the incidence of bone loss in patients with PKU. As my research shows, the incidence of osteoporosis in patients with PKU is higher than the normal population. In 41,3 % of PKU patients were diagnosed osteopenia and osteoporosis in 2,2 %. In the normal population, 99 % of respondents have a normal BMD, while 1 % were diagnosed the osteoporosis. Furthermore, comparing the data with the normal and PKU populations, it has not been confirmed by external influences such as BMI, drinking coffee and cola drinks, and physical activity for example, in regards to bone loss. Conversely showed, that phenylketonuriacs consume cola drinks more than the normal population, most likely due to the factor of gaining quick energy.
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