J Genet Med.  2008 Jun;5(1):21-25.

Seven-year experience with inherited metabolic disorders screening by tandem mass spectrometry

  • 1Seoul Clinical Laboratories, Seoul Medical Science Institute, Seoul, Korea. drssm@scllab.co.kr
  • 2College of Pharmacy, Duksung Womens University, Seoul, Korea.


PURPOSE: In recent years, many countries have adopted newborn screening programs that use tandem mass spectrometry (MS/MS) to screen and the number of diseases screened has also increased. We began screening for inherited metabolic disorders using MS/MS in April, 2001. Our goal was to determine the overall prevalence of metabolic disorders and to assess the effectiveness of newborn screening by MS/MS in Korea.
From April, 2001 to December, 2007, we screened newborns and high risk groups using MS/MS. Acylcarnitines and amino acids were extracted and butylated and were introduced into the inlet of MS/MS. Confirmatory testing including a repeat newborn screening, and urine organic acid and plasma amino acid analysis were performed on a case-by-case basis.
The total number of screened subjects 284,933 which comprised 251,799 neonates and 33,134 high risk subjects. The recall rate was 0.4% (1158 tests) and true positive cases were 117 (0.04%). Confirmed metabolic disorders (newborn/high risk group) were as follows; 78 (25/53) amino acid disorders, 27 (16/11) organic acid disorders, and 12 (5/7) fatty acid oxidation disorders. The estimated prevalence of inherited metabolic diseases in newborns was 1:5,000 and that in the total group was 1:2,000.
Newborn screening by MS/MS improved the detection of many inherited metabolic disorders. We therefore propose that all newborns be screened by a MS/MS national program and followed-up using a systemic organization strategy.


Tandem mass spectrometry; Newborn screening; Inherited metabolic disorder

MeSH Terms

Amino Acids
Infant, Newborn
Mass Screening
Metabolic Diseases
Tandem Mass Spectrometry
Amino Acids
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