Published 2012, (AACC Publication),
Edited by Uttam Garg, Laurie D. Smith, and Bryce A. Heese
Laboratory testing plays an integral part in the diagnosis and treatment of inherited metabolic diseases. With the introduction of expanded newborn screening for inherited metabolic diseases, increasing numbers of laboratory personnel and healthcare providers are involved in initial and follow-up confirmatory laboratory testing. Because inherited metabolic diseases are still rare and infrequently encountered, few guides to the selection and interpretation of laboratory tests are available, which can make choosing the appropriate diagnostic test challenging. Written by practicing clinical and laboratory experts, Laboratory Diagnosis of Inherited Metabolic Diseases is intended to provide information about the laboratory test selection, sample collection, processing and handling, and results interpretation in patients with suspected inherited metabolic diseases. Although detailed method description is beyond the scope of this book, interested laboratorians will find information to identify necessary resources to set up a particular method. Illustrative metabolic pathways and chromatograms for a number of inherited metabolic disorders are provided. The book also provides the basic information on clinical presentation, genetics and pathogenesis, treatment, and prognosis of selected inherited metabolic diseases.