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Calcium intake in patients with disorders beta oxidation fatty acids with long chain.
Ondrová, Ellen ; Floriánková, Marcela (advisor) ; Ješina, Pavel (referee)
The bachelor thesis deals with rare hereditary metabolic disorders, LCHAD (long chain 3- hydroxyacyl-coenzyme A dehydrogenase) deficiency and MTP (mitochondrial trifunctional protein) or TFP (trifunctional protein) deficiency. Deficiencies of these enzymes cause a disturbance in the cycle of β-oxidation of long-chain fatty acids. The basis of treatment for these disorders are dietary and regimen measures. The main goal of the bachelor's thesis was to determine the level of compliance in dietary and regimen measures and calcium intake in patients with LCHAD/MTP deficiency. The theoretical part first describes hereditary metabolic disorders as a large heterogene- ous group of serious hereditary disorders, some of which occur rarely. These rare diseases include LCHAD/MTP deficiency. First, general findings of hereditary metabolic disorders, their history, occurrence, heredity, pathogenesis, diagnosis, clinical manifestations and treatment, are briefly summarized. Furthermore, the theoretical part of the thesis deals with fatty acids as a nutrient, which plays a crucial role in the diet of a patient with LCHAD/MTP deficiency, as well as the β-oxidation process, which is disrupted in these de- ficiencies. The main part of this thesis is devoted to the disease itself, the LCHAD/MTP de- ficiency. It...
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