Biochemical Genetics and Inborn Errors of Metabolism
Inborn errors of metabolism (IEM) include a broad spectrum of defects of various gene products that affect intermediary metabolism in the body, resulting in clinical disease. Studying the molecular and biochemical mechanisms of these inherited disorders, systematically summarizing the disease phenotype and natural history, and providing diagnostic rationale and methodology and treatment strategy comprise the context of human biochemical genetics. This chapter focuses on newborn screening of IEM and laboratory diagnosis of these conditions and summarizes the clinical features, genetic basis, and clinical managements of some common IEM.
KeywordsEnzyme Replacement Therapy Fabry Disease Newborn Screening Gauche Disease Pompe Disease
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