Learning outcomes of the course unit
To provide the bases for the comprehension of the molecular pathogenesis of metabolic disease and its treatment.
Knowledge of basic biochemistry and cell biology is required.
Course contents summary
The course will provide the essentials for the comprehension of the pathogenesis of metabolic disease at the molecular level. No systematic approach will be adopted, given the small number of CFU. On the contrary, relevant examples of metabolic disease will be presented. The examples will be selected also on the basis of successful biotechnological approaches for diagnosis and therapy of the disease. The following subjects will be treated:
a) Aminoacidopathies (introductory remarks, hyperpheylalaninemias, urea cycle defects, omocystinuria)
b) Organelle disease (introductory remarks, mitochondrial and peroxisomal diseases, lysosomal storage diseases)
No specific text is adopted. Proper reference to the texts of biochemistry and cell biology used in previous courses is recommended. Lectures will be supported by slides and scientific literature, which will be provided to the students.
Oral lessons (slides and scientific literature will be used during the lessons) .
The tutorials will be provided to the students.
Oral examination (with discussion of scientific literature).