Expanded Newborn Screening

Abstract

The articles prior to January 2008 are part of the back file collection and are not available with a current paid subscription. To access the article, you may purchase it or purchase the complete back file collection here Marsha K Fearing, MD, MPH; Deborah Marsden, MBBS The newest technology available for newborn screening is tandem mass spectrometry (MS/MS), which allows for the addition of tests to identify more than 20 inborn errors of metabolism to previously available screening panels. MS/MS is based on the identification of amino acids and acylcarnitines (naturally occurring conjugates of organic acid and fatty acid intermediates) by recognizing and quantifying the specific compounds of interest from the characteristic mass spectra (molecular weight) of each compound. This method is particularly elegant in that both amino acids and acylcarnitines can be extracted from the filter paper blood spot and measured in the same sample in a very short time by altering the scanning modes that have been automatically set by the software. 1. Millington DS, Kodo N, Norwood DL, Roe CR. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J inherit Metab Dis. 1990; 3:321-324. 2. National Institutes of Health Consensus Development Conference Statement. Phenylketonuria: Screening and Management. October 16-18, 2000 3. Gibson KM, Burlingame TG, Hogema B, et al. 2-Methybutyrl CoA Dehydrogenase Deficiency: a new inborn error of L-leucine metabolism. Ped Res. 2000; 47:830-833. 4. Ibdah JA Bennett MJ, Rinaldo P, et al. A fetal fatty acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med. 1999;340:1723-1731. 5. Gibson KM, Bennett MJ, NaylorEW, Morton DH. 3-Methylcrotonyl CoA carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcamitines in blood spots of their children. J Pediatr. 1998 Mar;132(3Ptl):519-23. 6. Iafolla AK, Millington DS, Chen YT, et al. Natural course of medium chain acyl CoA dehydrogenase deficiency. Am J Hum Genet. 1991;49(Suppl):S99. 7. Zytkovicz T, Fitzgerald EF, Marsden D, et al. Tandem mass spectrometric analysis for amino organic and fatty acid disorders in newborn dried blood spots: a 2-year summary from the New England Newborn Screening Program. Clin Chem. 2001;47:1945-1955. 8. Corydon MJ, Vockley J, Rinaldo P, et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl CoA dehydrogenase deficiency. Ped Res. 2001;49:1823. 9. Smith WE, Millington DS, Koeberl DD, Lesser PS. Glutaric aciduria type I, missed by newborn screening in an infant with dystonia following promethazine administration. Pediatrics. 2001;107:1184-1187.… 10.3928/0090-4481-20030801-08