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Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry

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초록

The main purpose of newborn screening is to diagnose genetic, metabolic, and other inherited disorders, at their earliest to start treatment before the clinical manifestations become evident. Understanding and tracing the biochemical data obtained from tandem mass spectrometry is vital for early diagnosis of metabolic diseases associated with such disorders. Accordingly, it is important to focus on the entire diagnostic process, including differential and confirmatory diagnostic options, and the major factors that influence the results of biochemical analysis. Compared to regular biochemical testing, this is a complex process carried out by a medical physician specialist. It is comprised of an integrated program requiring multidisciplinary approach such as, pediatric specialist, expert scientist, clinical laboratory technician, and nutritionist. Tandem mass spectrometry is a powerful tool to improve screening of newborns for diverse metabolic diseases. It is likely to be used to analyze other treatable disorders or significantly improve existing newborn tests to allow broad scale and precise testing. This new era of various screening programs, new treatments, and the availability of detection technology will prove to be beneficial for the future generations.

Abstract

The main purpose of newborn screening is to diagnose genetic, metabolic, and other inherited disorders, at their earliest to start treatment before the clinical manifestations become evident. Understanding and tracing the biochemical data obtained from tandem mass spectrometry is vital for early diagnosis of metabolic diseases associated with such disorders. Accordingly, it is important to focus on the entire diagnostic process, including differential and confirmatory diagnostic options, and the major factors that influence the results of biochemical analysis. Compared to regular biochemical testing, this is a complex process carried out by a medical physician specialist. It is comprised of an integrated program requiring multidisciplinary approach such as, pediatric specialist, expert scientist, clinical laboratory technician, and nutritionist. Tandem mass spectrometry is a powerful tool to improve screening of newborns for diverse metabolic diseases. It is likely to be used to analyze other treatable disorders or significantly improve existing newborn tests to allow broad scale and precise testing. This new era of various screening programs, new treatments, and the availability of detection technology will prove to be beneficial for the future generations.

참고문헌 (40)

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관련 논문AI추천

Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry윤혜란대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2015 · 제20권 제4호A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases고정민, 김윤정, 김종원, 남성혁, 박경선, 박인호, 이경아, 이순민, 채현욱연세대학교의과대학 · Yonsei Medical Journal2018 · 제59권 제5호Non-derivatizing Tandem Mass Spectrometry Assay for Expanded Newborn Screening and Cutoffs for Preterm Neonates송정한, Lee Joon Hee대한진단검사의학회 · Annals of Laboratory Medicine2023 · 제43권 제2호Comprehensive Evaluation of the NeoBase 2 Non-derivatized MSMS Assay and Exploration of Analytes With Significantly Different Concentrations Between Term and Preterm Neonates박형두, 성세인, 이범기, 이수연, 장윤실, Heo Won Young, Hwang Narae, Kim Jee Ah, Lee Hyun-Seung, Park Won Soon대한진단검사의학회 · Annals of Laboratory Medicine2023 · 제43권 제2호한국에서 탠덤 질량분석기를 이용한 선천성 대사이상질환 신생아 선별검사: 일 개 전문 수탁기관의 경험박은정, 서동희, 오정민, 이인범, 이현주, 조대연, 조성은대한진단검사의학회 · Laboratory Medicine Online2015 · 제5권 제4호차세대 신생아 선별검사에 대한 전망김종원, 박경진대한진단검사의학회 · Laboratory Medicine Online2015 · 제5권 제4호

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