title: Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease.
abstract: Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid alpha-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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Hospital Santa Rosa, INEC, Cuiabá, MT, Brazil.
authors.forename: Anderson Kuntz
authors.initials: AK
authors.lastname: Grzesiuk
authors.forename: Sueli Mieko Oba
authors.initials: SM
authors.lastname: Shinjo
authors.forename: Roseli
authors.initials: R
authors.lastname: da Silva
authors.forename: Marcela
authors.initials: M
authors.lastname: Machado
authors.forename: Marcial Francis
authors.initials: MF
authors.lastname: Galera
authors.forename: Suely Kazue Nagahashi
authors.initials: SK
authors.lastname: Marie
mesh_terms: D000328:Adult; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D005260:Female; D005838:Genotype; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D017286:Polysomnography; D035781:Siblings; D013147:Spirometry; D000520:alpha-Glucosidases / Q000172:deficiency* / Q000235:genetics*
chemical_list: D003402:Creatine Kinase; C509951:GAA protein, human; D000520:alpha-Glucosidases