![]() ![]() ![]() Since MSUD patients were detected incidental to PKU screening and there was no initial MSUD screening, the incidence of MSUD is almost certainly much greater. Two babies had concurrent elevations of PHE and LEU, but both were deceased at the time of recall.Ĭonfirmation of 15 MSUD cases was almost twice as high as the number of PKU/HPA confirmed cases. Of these, 15 had elevated LEU and were subsequently confirmed to have MSUD. These babies were recalled and a second dried blood spot was requested. Fifty-three of 28,248 babies had normal PHE concentrations but elevated LEU concentrations. Of these, 403 had elevated PHE and 9 were confirmed to have either classic PKU or hyperphenylalaninemia. From Septemto June 12, 2008, 966,096 babies were screened for PKU and 28,248 (2.9%) required second-tier testing. Elevated LEU findings were studied further to document the number of MSUD cases. We reviewed the PKU newborn screening database from Septemto Jto document the number of cases of elevated LEU detected incidental to confirming PHE elevations by second-tier TLC. We report on the incidental detection of MSUD by second-tier TLC PKU screening in order to begin to establish the evidence necessary for its inclusion in the Philippine Newborn Screening Program. Maple syrup urine disease (MSUD) is a prevalent inborn error of metabolism in the Philippines that is currently not part of the Philippine newborn screening program. Semiquantitative second-tier screening with thin layer chromatography (TLC) verifies inconclusive PKU screens. The BIA sensitivity is affected by substances such as antimicrobials. Newborn screening for phenylketonuria (PKU) in the Philippines uses a bacterial inhibition assay to detect elevations in phenylalanine (PHE). ![]()
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