Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease.
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.
Grzesiuk
Anderson Kuntz
AK
Hospital Santa Rosa, INEC, Cuiabá, MT, Brazil.
Shinjo
Sueli Mieko Oba
SM
da Silva
Roseli
R
Machado
Marcela
M
Galera
Marcial Francis
MF
Marie
Suely Kazue Nagahashi
SK
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*
D003402:Creatine Kinase; C509951:GAA protein, human; D000520:alpha-Glucosidases