68. Neonatal Screening Test for Inherited Metabolic Disorders by Tandem Mass Spectrometry in Korea; Experience of the Eone Reference Laboratory for 3 years
Poster: Mon 6:30-7:30PM
Cho Sung Eun
Eone Reference Laboratory
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Background : We report the prevalence of inherited metabolic
disorders in Korea.
Methods : We used API 2000 (Applied Biosystems/MDS SCIEX, Canada) for screening of 43 diseases, which are 17 items for amino acid, 14 for organic acid, and 12 for fatty acid disorders.
Results : Total number of samples tested were 117,291. In the 1,586 cases with presumptive positive screening results, 166 cases (0.10% of total cases, 10.5% of repeated cases) were identified as abnormal again; R/O 101 amino acid disorders, 53 organic acidurias, and 12 fatty acid metabolic disorders.
Conclusions : Tandem Mass Spectrometry is useful for screening the inherited metabolic disorders in newborns in Korea.