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Comparison of metabolic compensation of Czech patients with selected inherited disorders of amino acid metabolism with European guidelines
Jindřichová, Michaela ; Floriánková, Marcela (advisor) ; Ješina, Pavel (referee)
Homocystinuria, maple syrup urine disease (MSUD), glutaric aciduria type I (GA I), and tyrosinemia type I are inherited disorders of amino acid metabolism (IMD), the cornerstone of their treatment being a diet restricted in protein or limiting specific amino acids in the diet. The theoretical part of the thesis summarizes general information about inherited metabolic disorders, newborn screening, and nutritional therapy in the Czech Republic and abroad. The main objective of the practical part was to calculate the intake of limiting amino acids in patients with selected IMDs, compare it with international recommendations, and assess whether Czech patients with IMDs have metabolic compensation in line with recommendations. The thesis also focused on evaluating the potential positive and negative changes in nutritional therapy from a low-protein diet to a diet restricting specific amino acids. For 5 patients with GA I, 6 patients with MSUD, 3 patients with tyrosinemia type I, and 5 patients with homocystinuria, the calculation of the content of selected amino acids, macronutrients, and energy in the diet was performed, and metabolic compensation and anthropometric data were assessed. Results: In all patients with GA I, the intake of lysine was significantly lower than recommended by guidelines. On...
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