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| Human biochemical genetics: an insight into inborn errors of metabolism |
| Yu Chunli, Scott C. Ronald |
| Laboratory of Biochemical Genetics, Emory University, Decatur, GA 30033, USA; Center on Human Development and Disability, University of Washington, Seattle, WA 98195, USA |
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Abstract Inborn errors of metabolism (IEM) include a broad spectrum of defects of various gene products that affect intermediary metabolism in the body. Studying the molecular and biochemical mechanisms of those inherited disorder, systematically summarizing the disease phenotype and natural history, providing diagnostic rationale and methodology and treatment strategy comprise the context of human biochemical genetics. This session focused on: (1) manifestations of representative metabolic disorders; (2) the emergent technology and application of newborn screening of metabolic disorders using tandem mass spectrometry; (3) principles of managing IEM; (4) the concept of carrier testing aiming prevention. Early detection of patients with IEM allows early intervention and more options for treatment.
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Received: 22 November 2005
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