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KMID : 0918520180180010001
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Journal of the Korean Society of Inherited Metabolic Disease
2018 Volume.18 No. 1 p.1 ~ p.12
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8 Years Report of Urine Organic Acid Analysis - Comparison before and after Introduction of Neonatal Screening Test using Tandem Mass Spectrometry -
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Ahn Seok-Min
Shin Woo-Chul
Cheong Han-Bin
Seo Young-Jun
Jeong Hwal-Rim
Yoon Jong-Hyung
Bae Eun-Joo
Lee Hong-Jin
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Abstract
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Purpose: Disorders of organic acid metabolism have various clinical manifestations and it may be lifethreatening. The prognoses of affected children are dependent on early diagnosis and treatment. We report this study to find out detection rate of referred samples, clinical manifestations and age distribution after introduction of neonatal screening test using tandem mass spectrometry in Hallym University Chuncheon Sacred Heart Hospital during 8 years and 9 months.
Methods: The 2,794 patients referred from Jan. 2007 to Sep. 2015 were divided into four groups according to age. We conducted organic acid analysis of urine samples of patients and analyzed clinical manifestations and distributions of age at the diagnosis. For patients with ambiguous results, reanalysis of urine organic acid after diet restriction, protein loading and restriction, has been done.
Results: A total of 626 patients with 20 disorders were diagnosed. Mitochondrial disorders (482 patients) were the most common diagnosis, followed by ketolytic defects (67), 3-hydroxyisobutyric aciduria (32), EPEMA syndrome (8), 3-methylcrotonyl glycinuria (7), glutaric aciduria type II (6) and type I (4), methylmalonic aciduria (3), isovaleric aciduria (3) and medium chain acyl-CoA dehydrogenase deficiency (3).
Conclusion: As neonatal screening test using tandem mass spectrometry is increasingly common and medical environment is changed, detection rate of disorders of organic acid metabolism in this study has decreased compared to previous report. Because the deterioration can be prevented by early diagnosis and treatment, many pediatricians have to pay special attention to possibility of the disorders and make an effort for early diagnosis in clinical setting.
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KEYWORD
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Neonatal screening test, Tandem mass spectrometry, Urine organic acid analysis
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