3rd year General Medicine
winter term 2017/2018
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
1 | October 2nd | 16:15-17:45 | Prof. V. Kožich | Introduction to biochemical genetics |
2 | October 6th |
16:15-17:45 | Prof. V. Kožich | |
3 | October 9th |
16:15-17:45 | Asst. prof. Stiburkova |
Disorders of purine and pyrimidine metabolism and porphyrias; |
4 | October 13th |
16:15-17:45 | Asst. prof. Hrebicek | Hereditary disorders of saccharide metabolism and protein glycosylation |
5 | October 16th |
16:15-17:45 | Asst. prof. Jesina | Disorders of mitochondrial metabolism; pathobiochemistry of fasting |
6 | October 20st |
16:15-17:45 | Asst. prof. Hrebicek |
Hereditary disorders of metabolism and biogenesis of lysosomes and peroxisomes (2 files) |
7 | October 23th |
16:15-17:45 | Prof. V. Kožich | Diagnosis and therapy of monogenic disorders of metabolism |
8 | October 27th | 16:15-17:45 | # | # |
NEW: Examination regulations
Exam questions
Students of compulsory elective Patobiochemistry 1 (3rd. year) will have to pass an exam, they will answer two questions, one from each group of questions (see bellow). Students of elective Patocbiochemistry 1 attend a colloquium with the teachers and be ready to discuss the same topics.
Group I. General topics
- IEM of small molecules (substrate accumulation) – pathogenesis, symptoms and treatment options, examples
- IEM of small molecules (product deficiency) – pathogenesis, symptoms and treatment options, examples
- IEM of complex molecules (substrate accumulation) – pathogenesis, symptoms and treatment options, examples
- IEM of complex molecules (product deficiency) – pathogenesis, symptoms and treatment options, examples
- Newborn screening of IEM – general principles of organization, criteria for inclusion of diseases, incidence of screened diseases in the Czech Republic, laboratory methods
- Laboratory methods of IEM diagnostics and diagnostic approaches to IEM in symptomatic patients.
- Fasting and IEM in which the symptoms are triggered by fasting.
- Inheritance of IEM - examples of autosomal recessive, X-linked and maternally inherited IEM.
- Principles of treatment of IEM of small molecules.
- Principles of treatment of IEM of complex molecules.
Group II. Individual IEM
- Phenylketonuria and hyperphenylalaninemia, including incidence, causes, clinical symptoms, treatment, maternal hyperphenylalaninemia
- 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).
- Disorders of urea cycle (hyperamonemias).
- Genetic and dietary disorders of metabolism of folic acid, vitamin B12, and sulphur amino-acids.
- Disorders of fructose and galactose metabolism
- Glycogenoses (liver and muscle glycogenoses and Pompe disease).
- Disorders of mitochondrial beta-oxidation of fatty acids and carnitine cycle, including MCAD, VLCAD, and LCHAD.
- Gout (primary and secondary).
- Disorders of purine and pyrimidin metabolism.
- Mitochondrial disorders
- Porphyrias (hepatic and erythropoetic)
- Classification and patophysiological mechanisms of lysosomal disorders, example : features of a group of lysosomal diseases
- Mucopolysacccharidoses and glycoproteinoses
- Lipidoses, Niemann-Pick type C disease.
- Peroxisomal disorders.
- Disorders of glycoprotein glycosylation (CDG syndromes).
Last update: Sept 25th, 2017