the first three years of screening for medium chain acyl-coa dehydrogenase deficiency (mcadd) by newborn screening ontario第一个三年的筛查中链酰coa脱氢酶缺乏症(mcadd)新生儿筛查安大略省.pdfVIP

Kennedy et al. BMC Pediatrics 2010, 10:82 /1471-2431/10/82 RESEARCH ARTICLE Open Access The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario 1 2 1,2,3* 1 1,4 1 Shelley Kennedy , Beth K Potter , Kumanan Wilson , Lawrence Fisher , Michael Geraghty , Jennifer Milburn , Pranesh Chakraborty1,4,5 Abstract Background: Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a disorder of mitochondrial fatty acid oxidation and is one of the most common inborn errors of metabolism. Identification of MCADD via newborn screening permits the introduction of interventions that can significantly reduce associated morbidity and mortality. This study reports on the first three years of newborn screening for MCADD in Ontario, Canada. Methods: Newborn Screening Ontario began screening for MCADD in April 2006, by quantification of acylcarnitines (primarily octanoylcarnitine, C8) in dried blood spots using tandem mass spectrometry. Babies with positive screening results were referred to physicians at one of five regional Newborn Screening Treatment Centres, who were responsible for diagnostic evaluation and follow-up care. Results: From April 2006 through March 2009, approximately 439 000 infants were screened for MCADD in Ontario. Seventy-four infants screened positive, with a median C8 level of 0.68 uM (range 0.33-30.41 uM). Thirty-one of the screen positive infants have been confirmed to have MCADD, while 36 have been confirmed to be unaffected. Screening C8 levels were higher among infants with MCADD (median 8.93 uM) compared to those with false positive results (median 0.47 uM