Understanding Enzyme Assays for Lysosomal Storage Disorders – Integration of X-linked Adrenoleukodystrophy and SEEKER Workflows for Same-Day Referrals (Part III)

The recent additions of two lysosomal storage disorders (Pompe and MPS I) and a peroxisomal metabolic disorder (X-ALD) to the RUSP have led several labs to discuss adding these disorders to their screening panels. Our “Understanding Enzyme Assays for Lysosomal Storage Disorders” white paper series has examined key differences between enzymatic versus metabolic assays on digital microfluidics (FDA authorized) or tandem mass spectrometry (MS/MS) platforms. The series continues with a focus on the different screening methods for LSDs and X-ALD and how to optimize laboratory workflows when adding X-ALD.