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Biochemical basis of inherited metabolic disorders. Overview of their molecular bases, diagnostics and treatment. Poslední úprava: Hřebíček Martin, MUDr., Ph.D. (20.09.2018)
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Students will answer two questions, one from each of two pools of questions (see below):
Group I. General topics 1. IEM of small molecules (substrate accumulation) - pathogenesis, symptoms and treatment options, examples 2. IEM of small molecules (product deficiency) - pathogenesis, symptoms and treatment options, examples 3. IEM of complex molecules (substrate accumulation) - pathogenesis, symptoms and treatment options, examples 4. IEM of complex molecules (product deficiency) - pathogenesis, symptoms and treatment options, examples 5. IEM of energy deficits - pathogenesis, symptoms and treatment options, examples 6. Newborn screening of IEM - general principles of organization, criteria for inclusion of diseases, incidence of screened diseases in the Czech Republic, laboratory methods 7. Laboratory methods of IEM diagnostics and diagnostic approaches to IEM in symptomatic patients. 8. Fasting and IEM in which the symptoms are triggered by fasting. 9. Inheritance of IEM - examples of autosomal recessive, X-linked and maternally inherited IEM. 10. Principles of treatment of IEM of small molecules. 11. Principles of treatment of IEM of complex molecules.
Group II. Individual IEM 1. Phenylketonuria and hyperphenylalaninemia, including incidence, causes, clinical symptoms, treatment, maternal hyperphenylalaninemia 2. Disorders of metabolism of aromatic amino-acids except phenylketonuria, including tyrosinemia, alcaptonuria. IEM of branched-chain amino-acids (including maple-syrup urine disease and isovaleric, propionic and methylmalonic acidemias). 3. Disorders of urea cycle (hyperamonemias). 4. Genetic and dietary disorders of metabolism of folic acid, vitamin B12, and sulphur amino-acids. 5. Disorders of fructose and galactose metabolism 6. Glycogenoses (liver and muscle glycogenoses and Pompe disease). 7. Disorders of mitochondrial beta-oxidation of fatty acids and carnitine cycle, including MCAD, VLCAD, and LCHAD. 8. Gout (primary and secondary). 9. Disorders of purine and pyrimidin metabolism. 10. Mitochondrial disorders 11. Classification and patophysiological mechanisms of lysosomal disorders, example : features of a group of lysosomal diseases 12. Mucopolysacccharidoses and glycoproteinoses 13. Lipidoses, Niemann-Pick type C disease. 14. Peroxisomal disorders 15. Disorders of glycoprotein glycosylation (CDG syndromes).
Poslední úprava: Hřebíček Martin, MUDr., Ph.D. (07.11.2025)
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Introduction to biochemical genetics Hereditary disorders of amino-acid metabolism Hereditary disorders of saccharide metabolism and protein glycosylation Disorders of purine and pyrimidine metabolism Disorders of mitochondrial metabolism; pathobiochemistry of fasting Hereditary disorders of metabolism and biogenesis of lysosomes and peroxisomes Diagnosis and therapy of monogenic disorders of metabolism
Poslední úprava: Kohútová Vladislava, Ing. (27.09.2019)
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