This book is dedicated to an update on metabolic disorders and their consequences on the developing nervous system. In the last ten years, major scientific advances in biochemical diagnosis have enabled the identification of many new disease entities, as well as a better classification of clinical symptoms and their correlation to biochemical defects. This volume provides an introduction to basic sciences specifically relevant to this disease group, then focuses on each subgroup in turn: hyperphenylalaninaemias, mitochondrial encephalomyopathies, organic acidoses, urea cycle defects, lysosomal storage and peroxylsomal disorders. Finally, a discussion of long term follow-up and family related issues also reports the results of a four-year research project led by the Mariani Foundation.

Genetically determined myelinopathies are a large group of neurological diseases that present a challenge to the clinician, the biologist and the geneticist. During the last decade, the development of tools for exploring the nervous system and the human genome has had a tremendous impact on the understanding of these diseases. Thus, the advances in neuroimaging techniques and molecular genetic research are continuously influencing disease classification, diagnostic protocols, and management of patients. These topics are the focus of the present publication. The aim is to provide a comprehensive review of the most important issues regarding genetic myelin disorders.