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
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