3rd year General Medicine

winter term 2017/2018

If you have any questions or comments, please contact

Martin Hřebíček, M.D., PhD. (, 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

 Hereditary disorders of amino-acid metabolism 

 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

  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. Porphyrias (hepatic and erythropoetic)
  12. Classification and patophysiological mechanisms of lysosomal disorders, example : features of a group of lysosomal diseases
  13. Mucopolysacccharidoses and glycoproteinoses
  14. Lipidoses, Niemann-Pick type C disease.
  15. Peroxisomal disorders. 
  16. Disorders of glycoprotein glycosylation (CDG syndromes).



 Last update: Sept 25th, 2017