Glycogen Storage Disease Type II
Pompe Disease

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Description from OMIM

Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).



Prevalence of clinical parameters (%)







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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,

Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes. We report here the complete molecular analysis of the GAA gene performed on 40 Italian patients with late onset GSDII. Twelve novel alleles have been identified: missense mutations were functionally characterized by enzyme activity and protein processing in a human GAA-deficient cell line while splicing mutations were studied by RT-PCR and in silico analysis. A complex allele was also identified carrying three different alterations in cis. The c.-32-13T > G was the most frequent mutation, present as compound heterozygote in 85% of the patients (allele frequency 42.3%), as described in other late onset GSDII Caucasian populations. Interestingly, the c.-32-13T > G was associated with the c.2237G > A (p.W746X) in nine of the 40 patients. Genotype-phenotype correlations are discussed with particular emphasis on the subgroup carrying the c.-32-13T > G/c.2237G > A genotype.

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,

Pompe disease is an autosomal recessive disorder and is caused by a deficiency in acid alpha-glucosidase (GAA). A broad range of studies have been performed on Pompe patients from different countries. However, the clinical course and molecular basis of the disease in Mainland China have not been well defined. In the present study, we examined a total of 18 Chinese children with infantile-onset Pompe disease to better understand the clinical and genetic features in this population. The median age at symptom onset was 3.6 months (range: 1.7-6.8 months) and 6.3 months at diagnosis (range: 2.5-9.3 months). All but 1 patient died at a median age of 8.2 months (range: 4.7-18.7 months). Molecular analysis revealed 20 different mutations, 6 of which are novel (c.1356delC, c.378G>A, c.1827C>G, c.859-2 A>T, c.1551+2T>G, and c.1465G>T). The most common mutation in the study was c.1935C>A, accounting for 25% (9/36 alleles) of the mutations. Our study provides the first comprehensive examination of the clinical course of infantile-onset Pompe disease and mutations of the GAA gene for patients in Mainland China. Our results confirm the high prevalence of the c.1935C>A mutation, previously reported for other populations, in Mainland Chinese patients with infantile-onset Pompe disease. Furthermore, six novel mutations in the GAA gene are reported for the first time.

Gene - Feb 2014