This pocket size clinical reference provides concise information on diagnosis and management of inherited metabolic diseases. Topics in this handy guide cover approaches to metabolic diseases, specialized investigations of metabolic diseases, functional tests and additional diagnostic procedures, a system and symptom based approach to patients, and commonalities of therapy. Numerous tables and figures provide rapid access to individual items aiding in diagnostic and therapeutic decisions. This valuable resource is a useful tool for pediatricians, internists, neurologists, and clinical geneticists

Table of Contents

Inherited Metabolic Diseases: An OverviewApproach to the Patient with Metabolic DiseaseInvestigations for Metabolic DiseaseOrgan Systems in Metabolic DiseasesSelected Groups of Metabolic DiseaseAppendicesInde