PHYSIOPATHOLOGY OF CONGENITAL METABOLIC DISEASES
cod. 1002922

Academic year 2019/20
3° year of course - First semester
Professor
Ovidio BUSSOLATI
Academic discipline
Patologia generale (MED/04)
Field
Attività formative affini o integrative
Type of training activity
Related/supplementary
10 hours
of face-to-face activities
1 credits
hub: PARMA
course unit
in ITALIAN

Integrated course unit module: GENERAL PATHOLOGY AND HISTORY OF MEDICINE

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

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.

Other information

- - -

2030 agenda goals for sustainable development

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Contacts

Toll-free number

800 904 084

Student registry office

E. [segreteria.medicina@unipr.it] 
T. +39 0521 033700

Quality assurance office

Education manager

Giovanna Caselli
T. +39 0521 033851
Office E. didattica.dimec@unipr.it] 
Manager E. [giovanna.caselli@unipr.it] 

President of the degree course

[Prof.] [Marcello Giuseppe] [Maggio]
E. [marcellogiuseppe.maggio@unipr.it]

Faculty advisor

[Prof.] [Stefano] [Guizzardi]
E. [stefano.guizzardi@unipr.it] 

[Prof.] [Aderville] [Cabassi]
E. [aderville.cabassi@unipr.it] 

Career guidance delegate

[Prof.] [Stefano] [Guizzardi]
E. [stefano.guizzardi@unipr.it] 

[Prof.] [Aderville] [Cabassi]
E. [aderville.cabassi@unipr.it] 

Tutor Professors

[titolo] [nome] [cognome]
E. [email @unipr] (modificare link a email)

Erasmus delegate

[Prof.ssa] [Alessandra] [Dei Cas]
E. [alessandra.deicas@unipr.it] 
[Prof.ssa] [Mara] [Bonelli]
E. [mara.bonelli@unipr.it] 

[Prof.ssa] [Valentina] [Cannone]
E. [valentina.cannone@unipr.it] 

[Prof.] [Andrea] [Ticinesi]
E. [andrea.ticinesi@unipr.it] 

[Prof.] [Roberto] [Sala]
E. [roberto.sala@unipr.it] 

Quality assurance manager

[Prof.] [Paolo] [Del Rio]
E. [paolo.delrio@unipr.it] 

Tutor students

[titolo] [nome] [cognome]
E. [email @unipr] (modificare link a email)