Glycogen storage disease type II screening: Difference between revisions
No edit summary |
No edit summary |
||
Line 1: | Line 1: | ||
__NOTOC__ | __NOTOC__ | ||
{{Glycogen storage disease type II}} | {{Glycogen storage disease type II}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{Anmol}} | ||
==Overview== | ==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== | ==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> | |||
* | *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== | ==References== |
Revision as of 15:58, 18 January 2018
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]
- 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.