Patobiochemie 1 – dědičné metabolické poruchy - B82710 (General Medicine, elective)

• Anglický název: Pathobiochemistry 1 - Inherited Metabolic Disorders
• Zajišťuje: Klinika pediatrie a dědičných poruch metabolismu 1. LF UK a VFN (11-00650)
• Fakulta: 1. lékařská fakulta
• Platnost: od 2020
• Semestr: zimní
• Body: 2
• E-Kredity: 2
• Způsob provedení zkoušky: zimní s.:
• Rozsah, examinace: zimní s.:15/0, Kv [HS]
• Rozsah za akademický rok: 15 [hodiny]
• Počet míst: 10
• Minimální obsazenost: neomezen
• 4EU+: ne
• Virtuální mobilita / počet míst pro virtuální mobilitu: ne
• Stav předmětu: nevyučován
• Jazyk výuky: angličtina
• Způsob výuky: prezenční
• Způsob výuky: prezenční
• Poznámka: předmět je možno zapsat mimo plán; povolen pro zápis po webu
• Garant: prof. MUDr. Viktor Kožich, CSc.
• Atributy: Lékařství; Teoretický předmět
• Prerekvizity : {pro zápis PVP jako prerekvizita pro zápis volitelných Patobiochemií 1-3}
• Neslučitelnost : B82431

Anotace

Poslední úprava: Ing. Hana Mezuliáníková (11.07.2014)

Biochemical basis of inherited metabolic disorders. Overview of their molecular basis, diagnostics and treatment.

Sylabus

Poslední úprava: MUDr. Martin Hřebíček, Ph.D. (22.09.2017)

Lecture	Week	Date	Time	Lecture	Lecturer	Room
1	1	2.10.2017	Po 16:15 - 17:45	Introduction to biochemical genetics	Prof. Kožich	CHE1P1
2	2	6.10.2017	Pá 16:15 - 17:45	Hereditary disorders of amino-acid metabolism	Prof. Kožich	CHE1P1
3	2	9.10.2017	Po 16:15 - 17:45	Disorders of purine and pyrimidine metabolism and porphyrias	Asst. Prof. Stibůrková	CHE1P1
4	3	13.10.2017	Pá 16:15 - 17:45	Hereditary disorders of saccharide metabolism and protein glycosylation	Asst. Prof. Hřebíček	CHE1P1
5	3	16.10.2017	Po 16:15 - 17:45	Disorders of mitochondrial metabolism; pathobiochemistry of fasting	Asst. Prof. Ješina	CHE1P1
6	4	20.10.2017	Pá 16:15 - 17:45	Hereditary disorders of metabolism and biogenesis of lysosomes and peroxisomes	Asst. Prof. Hřebíček	CHE1P1
7	4	23.10.2017	Po 16:15 - 17:45	Diagnosis and therapy of monogenic disorders of metabolism	Prof. Kožich	CHE1P1

The lectures are held in Lecture Room CHE1P1 (Kateřinská 32, 2nd. floor., room 3.073) . 

Požadavky ke zkoušce

Poslední úprava: MUDr. Martin Hřebíček, Ph.D. (22.09.2017)

Students will have to attend a colloquium and  be ready to discuss following topics. 

 

Group I ( Disorders of "small molecules")

1. Disorders of fructose and galactose metabolism

2. Phenylketonuria and hyperphenylalaninemias - causes, treatment, maternal hyperphenylalaninemia

3. Disorders of metabolism of aromatic amino-acids (except phenylketonuria), branched-chain amino-acids, and other organic acidurias

4. Urea cycle disorders

5. Biotinidase deficiency, glutaric aciduria type I, disorders of creatine synthesis and other rare disorders of amino-acid metabolism

6. Hereditary and nutritional disorders of folate, cobalamine, and sulphur amino-acids metabolisms

7. Disorders of mitochondrial beta-oxidation of fatty acids (except MCAD)

8. Fasting, disorders of ketogenesis and ketolysis

9. Disorders of uric acid metabolism

10. Disorders of purine and pyrimidine metabolism

11. Mitochondrial disorders due to deficiencies of respiratory chain and citric-acid cycle enzymes

12. Mitochondri disorders caused by mutations in mitochondrial DNA

13. MCAD deficiency, incidence, diagnostics, and treatment

14. Liver porphyrias

15. Cutaneous porphyrias

    16. Carnitine cfycle and disorders of carnitine metabolism

 

Group II (general topics and disorders of "complex" molecules)

1 Disorders of "small" molecules: pathogenesis, symptoms, and treatment

2 Disorders of complex molecules: pathogenesis, symptoms, and treatment

3 Inheritance of inborn errors of metabolism, including mitochondrial inheritance - examples

4 Lysosomes, transport of lysosomal proteins, autophygy, LRO, transport of cholesterol to lysosomes

5 Classification and pathophysiological mechanisms of lysosomal disorders

6 Newborn screening : principles and current practice in the Czech Republic

7 Selective screening, current practice in the Czech Republic

8 Basis of treatment of disorders of "small" molecules - examples

9 Basis of treatment of disorders of "complex" molecules - examples

10 Laboratory methods for inherited disorders of metabolism

11 Mucopolysaccharidoses and glycoproteinoses

12 Lipidoses, Niemann-Pick type C disease and deficiencies of activators of lysosomal hydrolases

13 Peroxisomal disorders

14 Liver glycogenoses

15 Muscle glycogenoses and M.Pompe

16 Disorders of protein glycosylation (CDG disorders)