Glycogen Storage Disease Type II
Pompe Disease

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Prevalence (%) of clinical parameters based on data from 2 references describing 27 individuals

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Muscle weakness skeletal 78 % 16917947 2014-02-05
Cardiomyopathy circulatory 78 % 24269976 2014-02-05
Increased blood CK circulatory 67 % 16917947 2014-02-05
Fatigue skeletal 56 % 16917947 2014-02-05
Failure to thrive multi 56 % 24269976 2014-02-05
Increased blood transaminase circulatory 44 % 16917947 2014-02-05

List of references:

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
A L E Montalvo, B Bembi, M Donnarumma, M Filocamo, G Parenti, M Rossi, L Merlini, E Buratti, P De Filippi, A Dardis, M Stroppiano, G Ciana, M G Pittis,

Human mutation - Oct 2006

Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.
Lijun Fu, Wenjuan Qiu, Yongguo Yu, Ying Guo, Pengjun Zhao, Xu Zhang, Chunxiao Liu, Fen Li, Huimin Huang, Meirong Huang, Shubao Chen,

Gene - Feb 2014