Glycogen storage disease type II screening
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
According to the Recommended Uniform Screening Panel for newborn screening, screening for glycogen storage disease type 2 by Liquid Chromatography-Tandem Mass Spectrometry assay of leukocyte acid α-glucosidase is recommended for newborn.
Screening
- Glycogen storage disease type 2 (GSD type 2)is the first lysosomal storage disease to be added to Recommended Uniform Screening Panel for newborn screening panel.[1]
- Newborn screening for glycogen storage disease type 2 by Liquid Chromatography-Tandem Mass Spectrometry assay of leukocyte acid α-glucosidase (GAA) is recommended.
- Low residual GAA activity in leukocytes is determined by this assay.
- Measurement of GAA in blood samples can partially differentiate between infantile onset GSD type 2, late-onset GSD type 2, and pseudodeficiency.
References
- ↑ Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE; et al. (2017). "Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease". Clin Chem. 63 (4): 842–851. doi:10.1373/clinchem.2016.259036. PMC 5413112. PMID 28196920.