Abstract | OBJECTIVE: METHOD: Muscle samples were collected from normal controls (male 15, female 20; 12-78 years old), molecularly confirmed GSD III A patients (male 8, female 4, 2-27 years old) and other myopathy patients (male 9, 2-19 years old). Glycogen in the muscle homogenate was degraded into glucose by amyloglucosidase and phosphorylase respectively. The glycogen content and structure were identified by glucose yield determination. The debranching enzyme activity was determined using limit dextrin as substrate. Independent samples Kruskal-Wallis H test, Nemenyi-Wilcoxson-Wilcox test, and Chi-square test were used for statistical analyses by SPSS 11.5. RESULT: (1) GSD III A patients' glycogen content were higher, but G1P/G ratio and GDE activity were lower than those of the other two groups (P < 0.01). In all of the three parameters, there were no significant difference between normal controls and other myopathy patients. (2) The range of normal values: glycogen content 0.31%-0.43%, G1P/G ratio 22.37%- 26.43%, GDE activity 0.234-0.284 micromol/(g. min). (3) Enzymologic diagnostic method had a power similar to that of gene analysis in diagnosis of GSD-IIIA patients. The sensitivity and specificity of enzymologic diagnostic method and mutation detection were 91.7% and 100% respectively. CONCLUSION: Enzymologic diagnostic method of GSD IIIA was firstly established in China. The range of normal values was determined. This method could be used in diagnosing suspected GSD IIIA patients in the clinic.
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Authors | Wei Wang, Min We, Hong-mei Song, Zheng-qing Qiu, Wei-min Zhang, Xiao-yan Wu, Chao-xia Lu, Jun-ming Qi, Hong Jing, Fan Li |
Journal | Zhonghua er ke za zhi = Chinese journal of pediatrics
(Zhonghua Er Ke Za Zhi)
Vol. 47
Issue 8
Pg. 608-12
(Aug 2009)
ISSN: 0578-1310 [Print] China |
PMID | 19951495
(Publication Type: English Abstract, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Glycogen Debranching Enzyme System
- Glycogen
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Topics |
- Adolescent
- Adult
- Aged
- Biopsy
- Case-Control Studies
- Child
- Child, Preschool
- China
- Female
- Glycogen
(analysis)
- Glycogen Debranching Enzyme System
(analysis)
- Glycogen Storage Disease Type III
(diagnosis, enzymology, pathology)
- Humans
- Male
- Middle Aged
- Muscles
(chemistry, pathology)
- Young Adult
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