Inherited Metabolic Diseases and the Brain

Fanny Mochel is an academic researcher from University of Paris. The author has contributed to research in topics: Medicine & Triheptanoin. The author has co-authored over 150. She was previously a professor at the University of Rostock & the University of Minnesota. Dr Lachmann trained in the UK in General Internal Medicine and Metabolic Medicine. His interest in genetic disease led to a PhD and postdoctoral work on developing viral vectors for gene delivery to the brain. He moved to his current post at UCLH in 2005. He leads a multidisciplinary team looking after adults with inherited metabolic diseases. He is Chair of the Scientific Committee of the Recordati Rare Diseases Foundation and National Specialty Advisor for Metabolic Disorders to the English National Health Service. Dr García-Cazorla received her M.D. from the University of Barcelona Medical School and obtained a Pediatrics degree and a PhD (European Doctorate) in medicine at the “Universitat Autonoma de Barcelona”.She did her predoctoral training in inborn errors of metabolism at Hôpital Necker (Paris), and a post-doctoral research fellowship in the department of Neurology at Columbia University (New York). She is currently the coordinator of the Inborn Errors of Metabolism Unit at Hospital Sant Joan de Deu in Barcelona.

• 1. Introduction to Inherited Metabolic Diseases2. Introduction to neurometabolism, from neonates to the elderly3. Approaches to the Treatment of Neurometabolic Disorders4. Metabolic forms of Early neurodevelopmental disorders5. Intellectual disability6. CP mimics7. Motor disorders8. Epilepsy9. Encephalopathy10. Psychiatric manifestations11. White matter diseases12. Peripheral neuropathy13. Muscular disorders14. Strokes and stroke-like15. Neurosensorial deficits16. Selected neurometabolic disorders17. Mitochondrial diseases18. Lysosomal diseases19. X-Linked Adrenoleukodystrophy20. CBS and remethylation disorders21. Phenylketonuria22. Wilson Disease23. Cerebrotendinous xanthomatosis24. Glut1 deficiency25. L-Dopa responsive diseases