Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease

Arquivos de Neuro-Psiquiatria

Anderson Kuntz Grzesiuk²  Sueli Mieko Oba Shinjo¹  Roseli Da Silva¹  Marcela Machado¹  Marcial Francis Galera¹  Suely Kazue Nagahashi Marie¹ 

[1] ,INEC Hospital Santa Rosa Cuiabá MT ,Brazil

关键词: glycogen storage disease type II;    mutation;    Pompe disease;    doença de Pompe;    mutação;    glicogenose;   

DOI  :  10.1590/S0004-282X2010000200008

来源: SciELO

【 摘 要 】

Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the age of onset and symptoms. In this study were analyzed affected siblings with Pompe's disease (PD) and their distinct clinical and pathological presentations. METHOD: Diagnosis was performed by the clinical presentation of limb-girdle dystrophies and respiratory compromise. Confirmatory diagnoses were conducted by muscle biopsy, GAA activity measurement and by GAA gene genotyping. RESULTS: The findings suggested muscular involvement due to GAA deficiency. GAA genotyping showed they are homozygous for the c.-32-3C>A mutation. CONCLUSION: Herein we reported a family where three out of five siblings were diagnosed with late-onset PD, although it is a rare metabolic disease inherited in an autossomal recessive manner. We emphasize the importance of including this presentation within the differential diagnoses of the limb-girdle dystrophies once enzyme replacement therapy is available.

【 授权许可】

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