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REVIEW ARTICLE
Korean J Pediatr 2015 April;58(4) :117-122.
Published online 2015 April 15.       
Metabolic evaluation of children with global developmental delay
So-Hee Eun1, Si Houn Hahn2
1Department of Pediatrics, Korea University College f Medicine, Seoul, Korea
2Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA
Corresponding Author: So-Hee Eun ,Tel: +82-31-412-5096, Fax: +82-31-405-8591, Email: sheun@korea.ac.kr
Copyright © 2015 by The Korean Pediatric Society
ABSTRACT
Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the treatable causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.
Keywords: Metabolism | Inborn errors | Developmental disabilities
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