1. Participation at seminary lessons 100% . In case of absence (max. 3 times) at a seminary lesson it is necessary to present the topic in the form of seminar work next week or in the credit week.

2. To obtain at least the evaluation of mark E from average of otained points in 8 written tests.

Student can explain the patogenesis of inherited and metabolic diseases at molecular level and is able to describe the manifesting clinical signs in patient.

- Principles of metabolism regulation

- Disorders of glucose metabolism

- Disorders of fructose metabolism

- Disorders of galactose metabolism

- Disorders of pentose metabolism

- Disorders of glycogen metabolism

- Disorders of lipid metabolism

- Disorders of cholesterol metabolism

- Disorders of lipoprotein metabolism

- Disorders of amino acid metabolism and urea cycle

- Disorders of porphyrin metabolism

- Disorders of bilirubin metabolism

- Disorders of nucleotide metabolism

- Disorders of nutrition

- Hypovitaminosis, avitaminosis, hypervitaminosis

- Acid-base imbalance

- Water and electrolytes imbalance

- Disorders of hormone production by endocrine glands

- Saccharide, lipid, protein and amino acid metabolism in liver diseases

- Pathobiochemistry of kidney

- Pathobiochemistry of nerve system

- Pathobiochemistry of connective tissue

- Pathobiochemistry of blood

- Tumor metabolism

1. Organization of study and evaluation of students

Principles of metabolism regulation

Homeostasis

Intermediary metabolism

Metabolic regulation

Hormonal regulation

Nerve regulation

2. Disorders of glucose metabolism (enzyme deficiency, hyperglycaemia, diabetes mellitus, hypoglycaemia)

3. Disorders of fructose metabolism (hereditary intolerance of fructose, essencial fructosuria, fructose- 1,6-bisphosphatase deficiency)

Disorders of galactose metabolism (classical and non-classical galactosemia)

Disorders of pentose metabolism (essencial pentosuria)

Disorders of glycogen metabolism (glycogenosis)

4. Disorders of lipid metabolism (obesity, ketonaemia, ketonuria, myopathy, lipidosis, propionataemia, methylmalonaturia)

5. Disorders of cholesterol metabolism (xanthoma, cerebrotendinous xanthomatosis, lecithin cholesterol acyltransferase deficiency)

Disorders of lipoprotein metabolism (primary and secondary hyperlipoproteinemia, hypolipoproteinemia, alipoproteinemia, atherosclerosis)

6. Disorders of amino acid metabolism and urea cycle (oxaluria, homocystinuria, phenylketonuria, alcaptonuria, albinism)

7. Disorders of porphyrin metabolism (porphyrias)

Disorders of bilirubin metabolism (prehepatic, hepatic and posthepatic jaundice)

8. Disorders of nucleotide metabolism (hyperuricemia, gout, xanthinuria, orotaciduria, hyper-β-aminoisobutyraturia)

Disorders of nutrition (acute and chronic malnutrition, obesity, kwashiorkor)

Coeliakia

9. Hypovitaminosis, avitaminosis, hypervitaminosis

Acid-base imbalance (metabolic and respiratory acidosis, metabolic and respiratory alkalosis).

Water (dehydration and hyperhydration) and electrolytes (Na+, Cl-, K+, Mg2+,Ca2+, PO43-) imbalance

10. Disorders of hormone production by endocrine glands (pituitary gland, hypothalamus, adrenal gland, sex glands, pancreas, thyroid gland and parathyroid gland)

11. Saccharide, lipid, protein and amino acid metabolism in liver diseases

Pathobiochemistry of kidney (proteinuria, hypokalemia, hypocalcemia, diabetes phosphorus, acidosis, diabetes insipidus renalis, glycosuria, cystinuria).

12. Pathobiochemistry of nerve system (sphingolipidoses, psychosis)

Pathobiochemistry of connective tissue (mucopolysaccharidosis, atherosclerosis)

13. Pathobiochemistry of blood (pathobiochemistry of erythrocytes, leucocytes and thrombocytes), anaemia, hemoglobinopathies, thrombosis, hemophilia, dysproteinemias

Tumor metabolism. Cancerogenes, oncoviruses

Harvey, R.A., Ferrier, D.R.: Lippincott´s Illustrated Reviews: Biochemistry. 5th Edition. Baltimore, Lippincott Wiliams and Wilkins, 2011, 521pp.

Koolman, J., Roehm, K. H.: Color Atlas of Biochemistry. 2nd Edition. Stuttgart; New York : Georg Thieme Verlag, 2005, 476 pp.

Nelson, D. L., Cox, M. M.: Lehninger Principles of Biochemistry. 4th Edition. New York : W. H. Freeman and Company, 2005, 1119 pp.

Stryer, L.: Biochemistry. 3rd Edition. New York : W. H. Freeman and Company, 1988, 1089 pp.

Content prerequisite:

Biochemistry, Physiology

Continuous assessment:

continuous tests (on seminary lessons from actually tought topics)

Conditions for completion of course:

1. Participation at seminary lessons 100% . In case of absence (max. 3 times) at a seminary lesson it is necessary to present the topic in the form of seminar work next week or in the credit week.

2. To obtain at least the evaluation of mark E from average of otained points in 8 written tests.

Final assessment:

written exam