PHYSIOPATHOLOGY OF CONGENITAL METABOLIC DISEASES
Learning outcomes of the course unit
The student will comprehend the etiology and pathogenesis of the most common inherited
metabolic disorders and apply them to the pathophysiological features of the diseases.
The understanding of these subjects requires adequate bases of biochemistry,
Course contents summary
Disorders of amino acid metabolism. Disorders of carbohydrate
metabolism. Disorders of fatty acid oxydation. Disorders of membrane transport.
- Urea cycle defects
B) Disorders of carbohydrates:
- Fructose intolerance
C) Disorders of Fatty Acid Oxydation
D) Disorders of nutrients transporters:
- Defects of glucose transporters
- Kumar, Abbas, Fausto, Aster (Eds). Robbins e Cotran – Pathologic Basis of Disease - Elsevier Masson, 2015
- Mainiero, Misasi, Sorice (Eds.) Patologia Generale e Fisiopatologia Generale,
2 vol. VI edizione
Altucci, Berton, Moncharmont, Stivala (Eds.)
Patologia e Fisiopatologia Generale, 2 vol.
Additional references will be suggested during the lectures, together with bibliography/sitography.
Interactive oral lessons supported with iconographic material available 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
No interim summative evaluation is programmed, while valutative or diagnostic evaluations will be possible.
The final summative evaluation will consist in the oral examination of the Integrated Course.
For further information see the Integrated Course of General Pathology and History of Medicine.