Glycogen storage disease type II screening
|
Glycogen storage disease type II Microchapters |
|
Differentiating Glycogen storage disease type II from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Glycogen storage disease type II screening On the Web |
|
American Roentgen Ray Society Images of Glycogen storage disease type II screening |
|
Directions to Hospitals Treating Glycogen storage disease type II |
|
Risk calculators and risk factors for Glycogen storage disease type II screening |
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][2][3]
- Newborn screening for GSD 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.
- ↑ Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC; et al. (2008). "Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program". Pediatrics. 122 (1): e39–45. doi:10.1542/peds.2007-2222. PMID 18519449.
- ↑ Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A; et al. (2012). "Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria". Lancet. 379 (9813): 335–41. doi:10.1016/S0140-6736(11)61266-X. PMID 22133539.