Inborn Errors of Metabolism

New inborn errors of metabolism findings from National Taiwan University published

Published in Genetics and Environmental Law Weekly, December 23rd, 2006

Investigators publish new data in the report "Tandem mass neonatal screening in Taiwan--report from one center. 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," researchers in Taipei, Taiwan report.

"Between August 2001 and July 2004, 199, 922 neonates were screened for 10 amino acids and acylcarnitines using MS/MS in a single center. 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...

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Source: Genetics and Environmental Law Weekly (2006-12-23)

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