Glycogen storage disease type II screening: Difference between revisions
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==Overview== | ==Overview== | ||
According to the | 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 [[4|leukocyte]] acid α-glucosidase is recommended for newborn. | ||
==Screening== | ==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.<ref name="pmid28196920">{{cite journal| author=Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE et al.| title=Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease. | journal=Clin Chem | year= 2017 | volume= 63 | issue= 4 | pages= 842-851 | pmid=28196920 | doi=10.1373/clinchem.2016.259036 | pmc=5413112 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28196920 }} </ref><ref name="pmid18519449">{{cite journal| author=Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC et al.| title=Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. | journal=Pediatrics | year= 2008 | volume= 122 | issue= 1 | pages= e39-45 | pmid=18519449 | doi=10.1542/peds.2007-2222 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18519449 }} </ref><ref name="pmid22133539">{{cite journal| author=Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A et al.| title=Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. | journal=Lancet | year= 2012 | volume= 379 | issue= 9813 | pages= 335-41 | pmid=22133539 | doi=10.1016/S0140-6736(11)61266-X | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22133539 }} </ref> | *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.<ref name="pmid28196920">{{cite journal| author=Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE et al.| title=Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease. | journal=Clin Chem | year= 2017 | volume= 63 | issue= 4 | pages= 842-851 | pmid=28196920 | doi=10.1373/clinchem.2016.259036 | pmc=5413112 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28196920 }} </ref><ref name="pmid18519449">{{cite journal| author=Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC et al.| title=Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. | journal=Pediatrics | year= 2008 | volume= 122 | issue= 1 | pages= e39-45 | pmid=18519449 | doi=10.1542/peds.2007-2222 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18519449 }} </ref><ref name="pmid22133539">{{cite journal| author=Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A et al.| title=Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. | journal=Lancet | year= 2012 | volume= 379 | issue= 9813 | pages= 335-41 | pmid=22133539 | doi=10.1016/S0140-6736(11)61266-X | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22133539 }} </ref> | ||
*Newborn screening for | *[[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. | *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. | *Measurement of GAA in blood samples can partially differentiate between infantile onset GSD type 2, late-onset GSD type 2, and pseudodeficiency. | ||
Revision as of 15:16, 23 January 2018
Glycogen storage disease type II Microchapters |
Differentiating Glycogen storage disease type II from other Diseases |
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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][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.