Laboratory Diagnosis of Inherited Metabolic Diseases,

Laboratory Diagnosis of Inherited Metabolic Diseases, Second Edition provides the most up-to-date guidance on laboratory test selection and interpretation, illustrated metabolic pathways, and information on clinical presentation, genetics, pathogenesis, treatment, and prognosis of these diseases. Since the first edition and the expansion of newborn screening, an increasing number of healthcare providers are encountering metabolic disorders, so selecting and interpreting tests can be challenging. This fully revised edition offers simple and practical approaches to understanding metabolic diseases, assisting in the selection of tests for confirmatory diagnosis and clinical follow-up.

Biochemical genetic testing is a key laboratory medicine discipline for evaluating, diagnosing, and treating inherited metabolic diseases (IMDs). These tests are complex and specialized, and use a variety of specimens, including blood, urine, plasma, and cerebrospinal fluid. The tests evaluate enzyme activity, protein function, and metabolite levels, such as fatty acids, amino acids, and organic acids.

Key Features

• Presents brief descriptions of metabolic diseases as a basis for understanding each disease mechanism
• Covers initial diagnostic markers, emphasizing the importance of biomarkers in disease monitoring and management
• Provides substantial updates to the "Genetics and Pathogenesis" sections to reflect new discoveries and insights over the past twelve years
• Includes two new chapters on "Disorders of Vitamins and Co-factors" and "Disorders of Trace Elements," offering detailed analysis of related disorders