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Diagnosis of inherited metabolic disorders based on their diverse clinical features and laboratory tests

Korean Journal of Pediatrics 2006;49(11):1140-1151.
Published online November 15, 2006.
Diagnosis of inherited metabolic disorders based on their diverse clinical features and laboratory tests
Han-Wook Yoo
Medical Genetics Clinic & Laboratory, Department of Pediatrics, Asan Medical Center, University of U
유전성 대사질환의 임상증상과 진단
울산의대 서울아산병원 소아과학교실, 의학유전학클리닉 및 검사실
Han-Wook Yoo, Email: hwyoo@amc.seoul.kr
Inherited metabolic disorders are individually rare but as a whole, they are nor rare. Since Archibald Garrod introduced a concept of “inborn error of metabolism” or “chemical individuality”, more than 500 diseases are currently known, affecting approximately one in 500 newborns cumulatively. They frequently manifest with acute, life-threatening crisis that require immediate specific intervention or they present with insidious diverse symptoms and signs involving multiple visceral organs or tissues as well as central nervous system, hampering a correct diagnosis. In addition, many pediatricians are not familiar with all diagnostic and therapeutic strategies for diverse inherited metabolic disorders. However, the prognosis of affected children are heavily dependent on rapid and effective treatment. In this lecture, practical guidelines for the specific diagnosis based on diverse clinical features of inherited metabolic disorders will be described. Many sophisticated laboratory tests are available for confirmatory diagnosis of each disease, which challenge to general pediatricians with respect to knowledge about biochemical metabolite assay test, enzymatic test and DNA diagnostic tests. Sample collections, indications, methods and interpretation of results in varying laboratory tests will be listed as well.
Key Words: Inherited metabolic disorders , Diagnosis based on clinical features , Laboratory tests

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