論文

査読有り
2018年9月1日

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

Molecular Genetics and Metabolism Reports
  • Naoaki Shibata
  • Yuki Hasegawa
  • Kenji Yamada
  • Hironori Kobayashi
  • Jamiyan Purevsuren
  • Yanling Yang
  • Vu Chi Dung
  • Nguyen Ngoc Khanh
  • Ishwar C. Verma
  • Sunita Bijarnia-Mahay
  • Dong Hwan Lee
  • Dau-Ming Niu
  • Georg F. Hoffmann
  • Yosuke Shigematsu
  • Toshiyuki Fukao
  • Seiji Fukuda
  • Takeshi Taketani
  • Seiji Yamaguchi
  • 全て表示

16
開始ページ
5
終了ページ
10
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1016/j.ymgmr.2018.05.003
出版者・発行元
Elsevier Inc.

Background: Expanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs), and amino acid disorders (AAs), is increasingly popular but has not yet been introduced in many Asian countries. This study aimed to determine the incidence rates of OAs, FAODs, and AAs in Asian countries and Germany using selective screening and ENBS records. Materials and methods: Selective screening for IMDs using gas chromatography–mass spectrometry and MS/MS was performed among patients suspected to be afflicted in Asian countries (including Japan, Vietnam, China, and India) between 2000 and 2015, and the results from different countries were compared. Similarly, ENBS results from Japan, South Korea, Taiwan, and Germany were compared. Additionally, the results of selective screening and ENBS in Japan were compared. Results: Among 39,270 patients who underwent selective screening, IMDs were detected in 1170. Methylmalonic acidemia was frequently identified in several countries, including Japan (81/377 diagnosed IMDs), China (94/216 IMDs), and India (72/293 IMDs). In Vietnam, however, β-ketothiolase deficiency was particularly frequent (33/250 IMDs). ENBS yielded differences in overall IMD rates by country: 1:8557 in Japan, 1:7030 in Taiwan, 1:13,205 in South Korea, and 1:2200 in Germany. Frequently discovered diseases included propionic acidemia (PPA) and phenylketonuria (PKU) in Japan, 3-methylcrotonyl-CoA carboxylase deficiency (MCCD) and PKU in Taiwan, MCCD and citrullinemia type I in South Korea, and PKU and medium-chain acyl-CoA dehydrogenase deficiency in Germany. Furthermore, in Japan, selective screening and ENBS yielded respective PPA frequencies of 14.7% and 49.4% among all organic acidemias. Conclusion: The incidence rates of IMDs vary by country. Moreover, the disease spectra of IMDs detected via selective screening differ from those detected via ENBS.

リンク情報
DOI
https://doi.org/10.1016/j.ymgmr.2018.05.003
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/29946514
ID情報
  • DOI : 10.1016/j.ymgmr.2018.05.003
  • ISSN : 2214-4269
  • PubMed ID : 29946514
  • SCOPUS ID : 85047131665

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