Pompe disease is a systemic metabolic disorder characterized by lack of acid-alpha glucosidase (GAA) resulting in ubiquitous lysosomal glycogen accumulation. Respiratory and ambulatory dysfunction are prominent features in patients with Pompe yet the mechanism defining the development of muscle weakness is currently unclear. Transgenic animal models of Pompe disease mirroring the patient phenot...

Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen. Deficiency of GAA leads to systemic glycogen accumulation in the lysosomes of skeletal muscle, motor neurons, and smooth muscle. Skeletal muscle and motor neuron pathology are known to contribute to respiratory insufficiency in Pompe dise...

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 là bệnh di truyền hiếm gặp thuộc nhóm các rối loạn dự trữ trong tiêu thể. Nguyên nhân của được xác định do đột biến gen GAA, dẫn đến thiếu hụt enzyme alpha glucosidase A thể tế bào, từ đó gây ứ đọng glycogen bào. Cho nay đã có gần 700 GAA báo cáo. Xác và phát hiện người lành mang ý nghĩa rất lớn tư vấn truyền, hạn chế sinh ra những đứa trẻ bị bệnh. Mục nghiên cứu này trên đối tượng nguy c...

Pompe disease is an autosomal recessive, progressive, debilitating, and often fatal neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA). It is characterized by the accumulation of glycogen in muscle tissue that leads to progressive muscle weakness and loss of function. It presents as a broad spectrum of clinical phenotypes, with varying rates of progression, sympto...

The patient was a 15 year-old girl who turned out at the Physical Therapy Clinic presenting progressive scoliosis and angle of 50o Coob by X-Ray. She complained of back pain, headache and weakness of shoulder and pelvic girdle. Physical therapy evaluation came across features of delayed motor development and undernourishment, together with generalized muscle weakness (grade = 4) which was obser...

Approximately 35-40% of patients with classic infantile Pompe disease treated with enzyme replacement therapy (ERT) develop high, sustained antibody titers against the therapeutic enzyme alglucosidase alfa, which abrogates the treatment efficacy. Induction of antigen-specific immune tolerance would greatly enhance ERT for these patients. Here we show that a short-course treatment with non-deple...

Introduction Enzyme-replacement therapy (ERT) with alglucosidase alfa has improved the lifespan of patients with classic infantile Pompe disease, although ERT is not effective in a subset of patients who mount an immune response to the exogenous enzyme. We studied the development of antibodies in response to ERT and its effect on clinical outcomes in 11 patients with classic infantile Pompe dis...

Pompe disease is a lysosomal storage disorder caused by alpha-glucosidase deficiency. The disease is characterized by accumulation of glycogen in the lysosomes. The accumulation has unique ultrastructural features which enable a prenatal diagnosis by electron microscopy. We describe prenatal electron microscopic testing in a fetus of a mother whose previous child died of Pompe disease. The dise...

Background Since 2006, enzyme replacement therapy (ERT) has been available as a treatment for patients with Pompe disease. ERT has shown efficacy concerning muscle strength and pulmonary function in adult patients. However, no data on the effect of ERT on the survival of adult patients are currently available. Our objective was to assess the effect of ERT on survival in adult patients with Pomp...