3rd year General Medicine
winter term 2019/2020
If you have any questions or comments, please contact
Martin Hřebíček, M.D., PhD. (martin.hrebicek@lf1.cuni.cz, tel. 2 2496 7208).
Syllabus and presentations
The lectures take place each Monday and Friday in the lecture hall CHE1P1 (Kateřinská 32, 2nd floor, Room 3.073 ) Kateřinská 32, Praha 2
|
Week |
Date |
Time |
Room |
Lecture |
Lecturer |
|
1 |
2.10.2023 |
Mon 16:15 - 17:45 |
DEKP2 |
Introduction to biochemical genetics |
Prof. Kožich |
|
1 |
6.10.2023 |
Fri16:15 - 17:45 |
CHE1P1 |
Hereditary disorders of amino-acid metabolism |
Prof. Kožich |
|
2 |
9.10.2023 |
Mon 16:15 - 17:45 |
DEKP2 |
Hereditary disorders of saccharide metabolism and protein glycosylation |
Asst. Prof. Hřebíček |
|
2 |
13.10.2023 |
Fri16:15 - 17:45 |
CHE1P1 |
Hereditary disorders of metabolism and biogenesis of lysosomes and peroxisomes |
Asst. Prof. Hřebíček |
|
3 |
16.10.2023 |
Mon 16:15 - 17:45 |
DEKP2 |
Disorders of mitochondrial metabolism; pathobiochemistry of fasting |
Assoc. Prof. Ješina |
|
3 |
20.10.2023 |
Fri16:15 - 17:45 |
CHE1P1 |
Disorders of purine and pyrimidine metabolism |
Assoc. Prof. Stibůrková |
|
4 |
23.10.2023 |
Mon 16:15 - 17:45 |
DEKP2 |
Diagnosis and therapy of monogenic disorders of metabolism |
Prof. Kožich |
|
DEKP2 (U Nemocnice 4, ground floor, Room 1.26) U Nemocnice 4, Praha 2 CHE1P1 (Kateřinská 32, 2.nd floor, Room 3.073) Kateřinská 32, Praha 2 |
The lectures are held in Lecture Rooms CHE1P1 (Kateřinská 32, 2nd floor, room 3.073) and
DEKP2 (U Nemocnice 4, ground floor, Room 1.26) U Nemocnice 4, Praha 2
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. Newborn screening of IEM - general principles of organization, criteria for inclusion of diseases, incidence of screened diseases in the Czech Republic, laboratory methods
6. 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 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).
Last update: Sept 24th, 2018
