Biochimie des erreurs innées du métabolisme [ WSBIM2230 ]
3.0 crédits ECTS
30.0 h
1q
| Teacher(s) |
Nassogne Marie-Cécile ;
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| Language |
French
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Place
of the course |
Bruxelles Woluwe
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| Main themes |
Genetic basis of inborn errors of metabolism are first reviewed: mutations, patterns of inheritance (autosomal recessive, autosomal dominant, X-linked and mitohondrial transmissions). Next chapters adress the major groups of inborn errors of metabolism : amino-acids, carbohydrates, lipids, purine and pyrimidine, porphyria, neurotransmitters. Peroxisomal, lysosomal and mitochondrial disorders are also described as well as congenital defects of glycosylation.. Each group of diseases are described in relation with the biochemical pathway involved: clinical and biological presentations, physiopathological mechanisms, diagnostic approach, treatment, prognosis and genetic abnormalities. In the last part, inborn errors are reviewed by the way of the study of differential diagnosis of several clinical and biochemical presentations.
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| Aims |
Introduction to the knowledge of diseases induced by inborn errors of metabolism
The contribution of this Teaching Unit to the development and
command of the skills and learning outcomes of the programme(s) can be
accessed at the end of this sheet, in the section entitled
“Programmes/courses offering this Teaching Unit”.
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| Evaluation methods |
Exam : oral evaluation preceeded by written preparation with notes.
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| Other information |
Backgrounds : basic knowledge in biochemistry and cellular biology ( baccalaureat in medecine, pharmacy or dentistery).
PowerPoint are available on icampus.
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Faculty or entity
in charge |
> SBIM
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