Learning objectives
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.
Prerequisites
The understanding of these subjects requires adequate bases of biochemistry,
genetics, physiology.
Course unit content
Disorders of amino acid metabolism. Disorders of carbohydrate
metabolism. Disorders of fatty acid oxydation. Disorders of membrane transport.
Full programme
A) Aminoacidopathies:
- Hyperphenylalaninemias
- Urea cycle defects
- Hyperomocysteinemia
B) Disorders of carbohydrates:
- Glycogenoses
- Fructose intolerance
- Galactosemia
C) Disorders of Fatty Acid Oxydation
D) Disorders of nutrients transporters:
- Defects of glucose transporters
- Cystinuria
Bibliography
- Kumar, Abbas, Fausto, Aster (Eds). Robbins e Cotran – Le Basi Patologiche delle Malattie - Elsevier Masson, 2015
- 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
Additional references will be suggested during the lectures, together with bibliography/sitography.
Teaching methods
Lessons will be on site in compliance with safety standards, provided that further instructions on the ongoing health emergency are not implemented.
Lectures 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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