Inborn Errors of Metabolism

Data

Official data in SubjectManager for the following academic year: 2024-2025

Topic

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.

Lectures

• 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

Practices

Seminars

Reading material

Obligatory literature

Literature developed by the Department

The teaching material will be handed out at the course.

Notes

Recommended literature

Conditions for acceptance of the semester

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.

Mid-term exams

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

Making up for missed classes

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.

Exam topics/questions

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

Examiners

Instructor / tutor of practices and seminars

• Decsi Tamás