In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The third edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases.
The Atlas of Metabolic Disease is divided into
sections of related disorders, such as disorders of amino acid
metabolism, lipid storage disorders and mitochondrial diseases,
with an introductory outline where appropriate summarizing the
biochemical features and general management issues. Within sections
each chapter deals with an individual disease, starting with a
useful summary of major phenotypic expression and including clear
and helpful biochemical pathways, identifying for the reader
exactly where the defect is occurring.
Throughout the book, plentiful photographs, often showing extremely
rare disorders, are an invaluable aid to diagnosis.