PHYSIOPATHOLOGY OF CONGENITAL METABOLIC DISEASES
Learning outcomes of the course unit
The student will comprehend the physiopathological bases of inherited metabolic disorders and apply them to the diagnosis and
treatment of the most common inborn conditions.
Understanding these subjects require adequate bases of biochemistry, general pathology and clinical pathology.
Course contents summary
Disorders of amino acid metabolism. Disorders of carbohydrate metabolism. Disorders of membrane transport. Organic acidemias.
Argomenti di Pediatria (M.Vanelli, ed.), Parma 2013 (pp. 197-226). Other
reference material and bibliography/sitography will be provided during lessons.
Interactive oral lessons integrated with iconographic material provided to the students on the Elly platform.
The active participation of the students will be stimulated through discussions of pathophysiological problems and clinical cases.
Assessment methods and criteria
Achievements will be verified at the level of the whole Course in Pediatrics through an oral examination that will concern also subjects treated in this Course.