Inborn Diseases of Metabolism Affecting Brain Development

1 ECTS

SUMMARY
Monogenic inborn errors have a prevalence of 1:100. Among these, metabolic diseases affecting brain development have a prevalence of 1:1500. These numerous, but rare and often orphan diseases deeply affect the brain development and functions. This course will provide an overview of the main metabolic diseases affecting brain development, from their genetic to their phenotypic (clinical, pathophysiological and biochemical) description. Students will also learn that these rare diseases also provide an excellent opportunity to analyze brain development and functions from an often unrecognized domain in neuroscience: Intermediary metabolism, which regulate all cellular essential pathways.

DATES
The course will take place on the following dates, from 12h15-14h:

• Wednesday April 17
  • Introduction to the course.
  • Metabolism and cerebral function during development.
  • Isolation and contacts between CNS and periphery: Development of blood-brain barrier and choroid plexus.

• Wednesday April 24
  • Hyperammonemia in newborns and children: Consequences for brain development.

• Wednesday May 1
  • Creatine deficiencies.

• Wednesday May 8
  • Serine deficiencies
  • Deficiency in glucose transporter GLUT1
  • Phenylketonuria and BH4 deficiencies

• Wednesday May 15
  • MCAD deficiency (Medium Chain Acyl-CoA Dehydrogenase)
  • Galactosemia
  • Biotinidase deficiency
  • Non-cetotic hyperglycinemia
  • Homocystinuria

LOCATION
Seminar room SAMOS, Polyclinique Médicale Universitaire (PMU), Rue du Bugnon 44, Lausanne. This is on the same floor as the main building of the CHUV (BH-08), near the main cafétéria.
Useful maps here.

EVALUATION
Based on a written exam.

REGISTRATION
By e-mail to the LN Coordinator before March 15 2013.

READING MATERIALS
These are the files related to the course: