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.
The 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. Defects of fatty acid oxydation. Disorders of membrane transport.
Argomenti di Pediatria (M.Vanelli, ed.), Parma 2013 (pp. 197-226). Other
reference material and bibliography/sitography will be provided during
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 pathophysiology and clinical cases.
Assessment methods and criteria
The fulfillment of didactic objectives 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.