Abstract | OBJECTIVE: METHOD: The assay of GAA activity was performed in dried blood spots (DBS) and mixed leukocytes with acarbose to eliminate isoenzyme interference and to generate the reference range. GAA activity was assayed in 700 specimens for DBS from normal subjects and 100 specimens for mixed leukocytes from normal subjects to set up reference range. GAA activity in the samples of 4 patients who were clinically suspected of GSD II and their parents were also assayed. RESULT: The intra-run and inter-run precision of the DBS method was less than 10%. GAA activity tested by DBS was stable for 28 days between room temperature and -80 degrees C. The reference range of newborns and children-adults in DBS samples was 8.92 - 60.03 pmol/(punch x h) and 8.00 - 37.43 pmol/(punch x h), respectively. The reference range in mixed leukocytes samples was 12.56 - 50.26 nmol/(mg protein x h). Four patients were diagnosed as GSD II with the above-mentioned two methods. CONCLUSION: The determination of GAA activity in DBS is sensitive and time-saving, and is suitable for high throughput analysis and newborn screening for GSD II. The assay of GAA activity in mixed leukocytes is accurate, fast and specific, and is suitable for final diagnosis of GSD II.
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Authors | Wen-juan Qiu, Xia Wang, Yu Wang, Jun Ye, Lian-shu Han, Hui-wen Zhang, Xue-fan Gu |
Journal | Zhonghua er ke za zhi = Chinese journal of pediatrics
(Zhonghua Er Ke Za Zhi)
Vol. 48
Issue 1
Pg. 55-9
(Jan 2010)
ISSN: 0578-1310 [Print] China |
PMID | 20441705
(Publication Type: Evaluation Study, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Glucan 1,4-alpha-Glucosidase
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Topics |
- Adolescent
- Adult
- Child
- Child, Preschool
- Glucan 1,4-alpha-Glucosidase
(metabolism)
- Glycogen Storage Disease Type II
(blood, diagnosis, enzymology)
- Humans
- Infant
- Leukocytes
(enzymology)
- Middle Aged
- Reference Values
- Young Adult
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