Inborn Diseases of Metabolism Affecting Brain Development
Organizer: Olivier Braissant
The course will take place on the following dates, from 12h15-14h:
Wednesday April 9 (BH18-143; main building of CHUV, 18th floor south)
o Introduction to the course.
o Metabolism and cerebral function during development.
o Isolation and contacts between CNS and periphery: Development of blood-brain barrier and choroid plexus.
Wednesday April 16 (seminar room 4, BH08; main building of CHUV, near auditoriums)
o Hyperammonemia in newborns and children: Consequences for brain development.
Wednesday April 30 (seminar room 4, BH08; main building of CHUV, near auditoriums)
o Creatine deficiencies.
Wednesday May 7 (seminar room 4, BH08; main building of CHUV, near auditoriums)
o Serine deficiencies
o Deficiency in glucose transporter GLUT1
o Phenylketonuria and BH4 deficiencies
Wednesday May 14 (seminar room 4, BH08; main building of CHUV, near auditoriums)
o MCAD deficiency (Medium Chain Acyl-CoA Dehydrogenase)
o Biotinidase deficiency
o Non-cetotic hyperglycinemia
For rooms please see respective course dates; useful maps can be found here.
Based on a written exam (mini-review).
By e-mail to the firstname.lastname@example.org before March 21, 2014 (course title as subject; supervisor in copy)
Files related to the course can be found in the moodle system. If you cannot access, please address to the LN coordinator.