Abstract
BackgroundPompe disease is an autosomal recessive lysosomal glycogen storage disorder that has been reported in different ethnic populations which carry different common mutations of the acid alpha-glucosidase (GAA) gene. The GAA mutation pattern in mainland Chinese patients with late-onset Pompe disease is still not well understood.MethodsWe presented the clinical and genetic characteristics of 27 mainland Chinese late-onset Pompe patients from 24 families.ResultsGAA mutation analysis revealed 26 different mutations, including 10 that were novel. The allelic frequency of c.2238G > C (p.W746C) was found to be 27.08% in this patient group. Respiratory dysfunction was diagnosed in 10 of 11 patients who underwent pulmonary function evaluation, although only four required ventilator support at night.ConclusionsOur findings indicate that c.2238G > C (p.W746C) is the most common mutation in mainland Chinese late-onset Pompe patients, as observed in Taiwanese patients. The novel mutations identified in this study expand the genetic spectrum of late-onset Pompe disease, and the prevalence of respiratory dysfunction highlights the importance of monitoring pulmonary function in late-onset Pompe patients.
Highlights
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that has been reported in different ethnic populations which carry different common mutations of the acid alpha-glucosidase (GAA) gene
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA)
Two patients presented with hyperCKemia as their initial symptoms
Summary
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that has been reported in different ethnic populations which carry different common mutations of the acid alpha-glucosidase (GAA) gene. The GAA mutation pattern in mainland Chinese patients with late-onset Pompe disease is still not well understood. Pompe disease (glycogen storage disease type II, acid maltase deficiency, OMIM #232300) is an autosomal recessive lysosomal glycogen storage disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). Pompe disease occurs in approximately 1 per 40,000 births [1], and patients are typically classified as early (infantile) or late-onset (childhood/juvenile/adult) according to the age of symptom onset. Patients with classical infantile-onset Pompe disease display a combination of generalized skeletal muscle weakness and cardiac hypertrophy that provoke cardiorespiratory failure and death within the first year of life [2]. Over 400 different mutations have been described [see http://www
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