Předmět Patobiochemie 1 – dědičné metabolické poruchy (B82431)

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Materiál	Typ	Datum	Počet stažení

Sylabus

 

Požadavky

Students will answer two questions, one from each of the two pools of questions (see bellow): Group I. General topics1. IEM of small molecules (substrate accumulation) - pathogenesis, symptoms and treatment options, examples2. IEM of small molecules (substrate deficiency) - pathogenesis, symptoms and treatment options, examples3. IEM of complex molecules (substrate accumulation) - pathogenesis, symptoms and treatment options, examples4. IEM of complex molecules (substrate deficiency) - pathogenesis, symptoms and treatment options, examples5. Newborn screening of IEM - general principles of organization, criteria for inclusion of diseases, incidence of screened diseases in the Czech Republic, laboratory methods6. Laboratory methods of IEM diagnostics and diagnostic approaches to IEM in symptomatic patients.7. Fasting and IEM in which the symptoms are triggered by fasting.8. Inheritance of IEM - examples of autosomal recessive, X-linked and maternally inherited IEM.9. Principles of treatment of IEM of small molecules.10. Principles of treatment of IEM of complex molecules. Group II. Individual IEM1. Phenylketonuria and hyperphenylalaninemia, including incidence, causes, clinical symptoms, treatment, maternal hyperphenylalaninemia2. 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 metabolism6. 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 disorders11. Porphyrias (hepatic and erythropoetic)12. Classification and patophysiological mechanisms of lysosomal disorders, example : features of a group of lysosomal diseases13. Mucopolysacccharidoses and glycoproteinoses14. Lipidoses, Niemann-Pick type C disease.15. Peroxisomal disorders16. Disorders of glycoprotein glycosylation (CDG syndromes). 

Garant

prof. MUDr. Viktor Kožich, CSc.