Document Detail

Tandem mass neonatal screening in Taiwan--report from one center.
MedLine Citation:
PMID:  17098689     Owner:  NLM     Status:  MEDLINE    
BACKGROUND/PURPOSE: Neonatal screening using tandem mass spectrometry (MS/MS) started in Taiwan in 2000. We evaluated the efficacy of this system by analyzing the frequency of diseases and the outcome of the patients identified. METHODS: Between August 2001 and July 2004, 199, 922 neonates were screened for 10 amino acids and acylcarnitines using MS/MS in a single center. RESULTS: In total, 29 cases of inborn errors of metabolism were detected. The overall prevalence was one per 6894 births. The most common inborn error found was 3-methylcrotonyl CoA carboxylase deficiency (10 cases, 34.5%), but none of the cases needed aggressive treatment. There were two cases of type I glutaric aciduria, two cases of maple syrup urine disease, and one case of type II citrullinemia, and early therapeutic intervention was effective for all of them. CONCLUSION: We found that MS/MS neonatal screening was valuable in the early diagnosis of severe and treatable inborn errors of metabolism such as organic acidemias and urea cycle disorders. It also detected less severe disorders that required only observation.
Hsiang-Po Huang; Kai-Lin Chu; Yin-Hsiu Chien; Ming-Lee Wei; Shu-Tzu Wu; Shiao-Fang Wang; Wuh-Liang Hwu
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of the Formosan Medical Association = Taiwan yi zhi     Volume:  105     ISSN:  0929-6646     ISO Abbreviation:  J. Formos. Med. Assoc.     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-11-13     Completed Date:  2007-01-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9214933     Medline TA:  J Formos Med Assoc     Country:  China (Republic : 1949- )    
Other Details:
Languages:  eng     Pagination:  882-6     Citation Subset:  IM    
Departments of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
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MeSH Terms
Amino Acids / blood
Carnitine / analogs & derivatives,  blood
Infant, Newborn
Mass Spectrometry*
Metabolism, Inborn Errors / diagnosis*
Neonatal Screening*
Reg. No./Substance:
0/Amino Acids; 0/acylcarnitine; 541-15-1/Carnitine

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