Inborn Errors of Metabolism

Adatok

A Tantárgybejelentőben megadott hivatalos adatok az alábbi tanévre: 2024-2025

Tematika

Inborn errors of metabolism represent rare, but altogether important diseases of paediatrics. Significant developments in therapeutic modalities during the last decade led to major improvement in the prognosis of the inherited diseases of metabolism. This course summarises basic knowledge about the diagnostics and therapy of inborn errors of metabolism. Practical examples of patients treated for these diseases in the Department of Paediatrics serve for discussing not only the way to diagnosis, but the long-term clinical care as well.

Előadások

• 1. Clinical signs and symptoms of inborn errors of metabolism - Decsi Tamás
• 2. Importance of inborn errors of metabolism in paediatrics - Decsi Tamás
• 3. General considerations in disturbances of amino acid metabolism - Decsi Tamás
• 4. Hyperphenylalaninaemia - Decsi Tamás
• 5. General considerations in disturbances of carbohydrate metabolism - Decsi Tamás
• 6. Galactosaemia - Decsi Tamás
• 7. Fructose intolerance - Decsi Tamás
• 8. Glycogenoses - Decsi Tamás
• 9. General considerations in disturbances of lipid metabolism - Decsi Tamás
• 10. Fatty acid oxidation disorders - Decsi Tamás
• 11. Urea cycle disorders - Decsi Tamás
• 12. Future of diagnosing and treating inborn errors of metabolism - Decsi Tamás

Gyakorlatok

Szemináriumok

A tananyag elsajátításához szükséges segédanyagok

Kötelező irodalom

Saját oktatási anyag

The teaching material will be handed out at the course.

Jegyzet

Ajánlott irodalom

A félév elfogadásának feltételei

Missing more than four hours of teaching excludes the student from the course. The performance of the students will be continuously evaluated during the course.

Félévközi ellenőrzések

The performance of the students will be continually evaluated during the course.

Távolmaradás pótlásának lehetőségei

Missing from maximum of four hours of teaching can be amended by reading the teaching material at home and answering questions related to the missed topic.

Vizsgakérdések

Clinical signs and symptoms of inborn errors of metabolism

General considerations in disturbances of amino acid metabolism

Hyperphenylalaninaemia

General considerations in disturbances of carbohydrate metabolism

Galactosaemia

Fructose intolerance

Glycogenoses

General considerations in disturbances of lipid metabolism

Fatty acid oxidation disorders

Urea cycle disorders

Vizsgáztatók

Gyakorlatok, szemináriumok oktatói

• Decsi Tamás