Learning objectives
Once completed the course, students will comprehend causes and mechanisms underlying the main inborn errors of metabolism (DD1, knowledge and understanding) so as to apply this knowledge to the pathophysiology of the most common clinical conditions (DD2, applying knowledge and understanding).
Prerequisites
An adequate reharsal of the information acquired in the courses of Biochemistry, Genetics and Physiologyy is highly recommended.
Course unit content
Inherited disorders of amino acid metabolism.
Inherited disorders of carbohydrate metabolism.
Disorders of fatty acid oxidation.
Disorders of channels and transporters.
Full programme
A) Inborn errors of amino acid metabolism:
- hyperphenylalaninemia
- urea cycle defects
- hyperhomocysteinemia.
B) Inborn errors of carbohydrate metabolism:
- glycogenosis
- fructose intolerance
- galactosemia.
C) Disorders of fatty acid oxydation.
D) Disorders of membrane transport:
- canalopathies
- cystic fibrosis
- defects of glucose transporters
- cystinuria
- cystinosis.
Bibliography
Kumar, Abbas, Fausto, Aster (Eds). Robbins e Cotran – Pathologic Basis of Disease. 10th ed., Elsevier, 2020.
- Mainiero, Misasi, Sorice (Eds.) Patologia Generale e Fisiopatologia Generale,
2 vol. VI edizione
Piccin, 2019.
Altucci, Berton, Moncharmont, Stivala (Eds.)
Patologia e Fisiopatologia Generale, 2 vol.
Ildeson-Gnocchi, 2018
Further reference material will be indicated during lectures.
Teaching methods
Lessons will be on site, will be interactive and will be carried on through a dialogue between the teacher and the students. Examples of true-life situations and clinical cases will be also provided so as to raise the interest of the students.
Supporting didactic material will be available on the specific, student-reserved platform (Elly) and will include slide presentations, audio-video aids or video-recording of the lessons.
Slide consultation will be necessary but NOT sufficient for students preparation.
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.
Other information
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