Dr. Tortorelli’s Lysosomal Storage Disorders Research Featured in Clinical Chemistry
According to recent research, newborn screening for lysosomal storage disorders has revealed that late-onset variants of these conditions are unexpectedly frequent and therefore may evade diagnosis.
Silvia Tortorelli, M.D., Ph.D., Consultant in Laboratory Genetics at Mayo Clinic, recently published an article on Mayo's efficient and cost-effective multiplex assay. The assay is used to diagnose lysosomal storage disorders and several peroxisomal disorders in patients presenting with diverse phenotypes at any age.
The article, published in Clinical Chemistry, demonstrates how Mayo's flow injection tandem mass spectrometry approach is amenable to high-throughput population screening for Hurler disease, Gaucher disease, Niemann–Pick A/B disease, Pompe disease, Krabbe disease, Fabry disease, X-adrenoleukodystrophy, and peroxisomal biogenesis disorder in dried blood spot.