UCL - Biochimie des erreurs innées du métabolisme

[SBIM2230]

[30h] 3 credits

Teacher(s): Marie-Cécile Nassogne, Marie-Françoise Vincent(coord.)

Language: French

Level: Second

Aims
Main themes
Other information (prerequisite, evaluation (assessment methods), course materials recommended readings, ...)

Aims

Introduction to the knowledge of diseases induced by inborn errors of metabolism

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.

Other information (prerequisite, evaluation (assessment methods), course materials recommended readings, ...)

Backgrounds : basic knowledge in biochemistry and cellular biology ( baccalaureat in medecine, pharmacy or dentistery).
Exam : oral evaluation preceeded by written preparation with notes.
The course will take place each tuesday of the first half-year : from 4 to 6 pm at the meeting room of the pediatric consultation (Saint-Luc -1 B5).
PowerPoint are available on icampus.