Předmět Patobiochemie 1 – dědičné metabolické poruchy (B82710)

Na serveru studentino.cz naleznete nejrůznější studijní materiály: zápisky z přednášek nebo cvičení, vzorové testy, seminární práce, domácí úkoly a další z předmětu B82710 - Patobiochemie 1 – dědičné metabolické poruchy, 1. lékařská fakulta, Univerzita Karlova v Praze (UK).

Materiál	Typ	Datum	Počet stažení

Požadavky

Students will have to attend a colloquium and  be ready to discuss following topics.  Group I ( Disorders of "small molecules")Disorders of fructose and galactose metabolismPhenylketonuria and hyperphenylalaninemias - causes, treatment, maternal hyperphenylalaninemiaDisorders of metabolism of aromatic amino-acids (except phenylketonuria), branched-chain amino-acids, and other organic aciduriasUrea cycle disordersBiotinidase deficiency, glutaric aciduria type I, disorders of creatine synthesis and other rare disorders of amino-acid metabolismHereditary and nutritional disorders of folate, cobalamine, and sulphur amino-acids metabolismsDisorders of mitochondrial beta-oxidation of fatty acids (except MCAD)Fasting, disorders of ketogenesis and ketolysisDisorders of uric acid metabolismDisorders of purine and pyrimidine metabolismMitochondrial disorders due to deficiencies of respiratory chain and citric-acid cycle enzymesMitochondri disorders caused by mutations in mitochondrial DNAMCAD deficiency, incidence, diagnostics, and treatmentLiver porphyriasCutaneous porphyrias16. Carnitine cfycle and disorders of carnitine metabolism Group II (general topics and disorders of "complex" molecules)1 Disorders of "small" molecules: pathogenesis, symptoms, and treatment2 Disorders of complex molecules: pathogenesis, symptoms, and treatment3 Inheritance of inborn errors of metabolism, including mitochondrial inheritance - examples4 Lysosomes, transport of lysosomal proteins, autophygy, LRO, transport of cholesterol to lysosomes5 Classification and pathophysiological mechanisms of lysosomal disorders6 Newborn screening : principles and current practice in the Czech Republic7 Selective screening, current practice in the Czech Republic8 Basis of treatment of disorders of "small" molecules - examples9 Basis of treatment of disorders of "complex" molecules - examples10 Laboratory methods for inherited disorders of metabolism11 Mucopolysaccharidoses and glycoproteinoses12 Lipidoses, Niemann-Pick type C disease and deficiencies of activators of lysosomal hydrolases13 Peroxisomal disorders14 Liver glycogenoses15 Muscle glycogenoses and M.Pompe16 Disorders of protein glycosylation (CDG disorders) 

Garant

prof. MUDr. Viktor Kožich, CSc.