Inborn Errors of Metabolism A Hospitalist’s Approach.pptVIP

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2017-12-23 发布于江西
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Inborn Errors of Metabolism A Hospitalist’s Approach.ppt

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Inborn Errors of Metabolism A Hospitalist’s Approach

Inborn Errors of MetabolismA Hospitalist’s Approach Erich C. Maul, DO, FAAP Assistant Professor of Pediatrics Section of Inpatient Pediatrics Kentucky Children’s Hospital University of Kentucky College of Medicine Objectives Understand grand concepts of metabolic diseases and inborn errors of metabolism (IEM) in infants Raise clinical suspicion for these diseases Form conceptual framework for initial diagnosis and management of IEM in infants Briefly discuss Newborn Screens Why this talk? Metabolic disease is tough However, for me… Why this talk? Metabolic disease is tough Often thought of later in illness With catastrophic outcomes There can be a simple construct that can help standardize the approach to uncovering metabolic disease IEM’s in General Mostly due to defect in or absence of an enzyme, cofactor or transport protein resulting a block in a specific metabolic pathway Generally single gene defects Involve all inheritance patterns, however, most common is autosomal recessive Common defects on a biochemical level Transport defects Accumulation of substrate Deficiency of product Secondary inhibition What can go wrong? IEM’s in General Individually-very rare, Collectively-very common More than 500 identified IEM’s Include amino acidopathies, fatty acid oxidation defects, organic acidemias, urea cycle defects, carbohydrate metabolism defects, peroxisomal disorders, lysosomal disorders, mitochondrial disorders Newborn Screening has been lifesaving Variable presentations Mild to severe Subtle to overt IEM’s in General Generally present in newborn period or shortly thereafter Typically at end of 1st week of life This will be the focus of this talk Key to finding IEM’s is not a detailed knowledge of biochemical pathways, but a HIGH INDEX OF SUSPICION in any critically ill neonate When should I suspect IEM? When the obvious confronts you… POSITIVE STATE NEWBORN SCREEN Subject to false positives Require confirmatory testing State labs are helpful in guiding you throu