Program and Abstracts for the SIMD Annual Meeting

Program and Abstracts for the SIMD Annual Meeting. Society for Inherited Metabolic Disorders 37th Annual Meeting; Saturday, March 9–March 12, 2014, Asilomar Conference Center, Pacific Grove, CA

65) NEWBORN SCREENING FOR LYSOSOMAL STORAGE DISORDERS, FRIEDREICH ATAXIA,WILSON DISEASE AND X-ADRENOLEUKODYSTROPHY. A COMPARATIVE EFFECTIVENESS STUDY.
Matern D, Raymond K, Isaya G, Tortorelli S, Gavrilov D, Hopwood J, Lorey F, Rinaldo P, Oglesbee D.

By October 2013, all 100,000 samples had undergone 1st and 2nd tier testing. Molecular genetic confirmation of presumptive positive cases is ongoing and will allow complete assessment of each assay's performance by February 2014.


66) THE (SURPRISING) PREVALENCE OF 12 LYSOSOMAL STORAGE DISORDERS, FRIEDREICH ATAXIA, WILSON DISEASE AND X-ADRENOLEUKODYSTROPHY IN CALIFORNIA
Dietrich Matern, Silvia Tortorelli, Dimitar Gavrilov, Kimiyo Raymond, Hao Tang, Fred Lorey, Piero Rinaldo, Devin Oglesbee.

Abnormal results were encountered by the primary screen, but 2nd tier testing and/or molecular genetic testing did not confirm a true positive case. Not a single false positive for Friedreich Ataxia was encountered; in fact, the 2nd tier test for frataxin was always normal while testing of known affected patients yielded abnormal results.