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 – Pathologic Basis of Disease - 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
The course will be held through lectures to Students either in the classroom (“in presenza”) or in synchronous-streaming (“in telepresenza”) on the Teams platform. Therefore, the opportunity of Student/Teacher interaction will be preserved both face to face and remotely, by the simultaneous use of the Teams platform.
Lectures will be supported by slide presentations, which will be available to students on the Elly platform (https://elly2020.medicina.unipr.it/).
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.
Other information
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