doi: 10.1016/s1570-0232(02)00077-6.
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
Affiliations
- PMID: 12127323
- DOI: 10.1016/s1570-0232(02)00077-6
Item in Clipboard
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
J Chromatogr B Analyt Technol Biomed Life Sci.
.
Abstract
Electrospray tandem mass spectrometry was applied to detect a series of inherited metabolic disorders during a newborn-screening pilot study and a selective screening in Japan. In our mass screening of 102,200 newborns, five patients with propionic acidemia, two with methylmalonic acidemia, two with medium-chain acyl-CoA dehydrogenase deficiency, three with citrullinemia type II, and one with phenylketonuria were identified. In a selective screening of 164 patients with symptoms mainly related to hypoglycemia and/or hyperammonemia, 12 with fatty acid oxidation disorders and six with other disorders were found. The results indicated the importance of newborn screening using this technology in Japan.
Copyright 2002 Elsevier Science B.V.
Similar articles
-
[Screening of newborns for inborn errors of metabolism by tandem mass spectrometry].Ugeskr Laeger. 2002 Nov 25;164(48):5607-12. Ugeskr Laeger. 2002. PMID: 12523003 Review. Danish.
-
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China].Zhonghua Er Ke Za Zhi. 2004 Jun;42(6):401-4. Zhonghua Er Ke Za Zhi. 2004. PMID: 15265419 Chinese.
-
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.Mol Genet Metab Rep. 2018 May 21;16:5-10. doi: 10.1016/j.ymgmr.2018.05.003. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 29946514 Free PMC article.
-
Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.Arch Pediatr. 2022 Jan;29(1):36-43. doi: 10.1016/j.arcped.2021.11.002. Epub 2021 Nov 27. Arch Pediatr. 2022. PMID: 34848132
-
Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Sep 5;823(2):122-30. doi: 10.1016/j.jchromb.2005.06.043. J Chromatogr B Analyt Technol Biomed Life Sci. 2005. PMID: 16046200 Review.
Cited by
-
Effects of Reducing L-Carnitine Supplementation on Carnitine Kinetics and Cardiac Function in Hemodialysis Patients: A Multicenter, Single-Blind, Placebo-Controlled, Randomized Clinical Trial.Nutrients. 2021 May 31;13(6):1900. doi: 10.3390/nu13061900. Nutrients. 2021. PMID: 34073024 Free PMC article. Clinical Trial.
-
Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management.Pediatr Res. 2005 May;57(5 Pt 2):78R-86R. doi: 10.1203/01.PDR.0000159631.63843.3E. Epub 2005 Apr 6. Pediatr Res. 2005. PMID: 15817498 Free PMC article. Review.
-
Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.Mol Genet Metab Rep. 2019 Nov 5;21:100535. doi: 10.1016/j.ymgmr.2019.100535. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31844625 Free PMC article.
-
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).J Inherit Metab Dis. 2007 Apr;30(2):139-44. doi: 10.1007/s10545-007-0506-1. Epub 2007 Feb 24. J Inherit Metab Dis. 2007. PMID: 17323144
-
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.J Inherit Metab Dis. 2007 Aug;30(4):507-14. doi: 10.1007/s10545-007-0543-9. Epub 2007 Mar 8. J Inherit Metab Dis. 2007. PMID: 17347912
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
