By a News Reporter-Staff News Editor at Gene Therapy Weekly -- A new study on Nutritional and Metabolic Diseases and Conditions is now available. According to news reporting from Taipei, Taiwan, by NewsRx journalists, research stated, "Pompe disease (glycogen storage disease type II or acid maltase deficiency) is a lysosomal disorder in which acid ?-glucosidase (GAA) deficiencies lead to intralysosomal accumulation of glycogen in all tissues; most notably in skeletal muscles. Both the patient's age at the onset of Pompe disease symptoms and the rate of deterioration caused by the disease can vary considerably."
The news correspondents obtained a quote from the research from National Taiwan University Hospital, "In classical infant-onset Pompe disease (IOPD), symptoms start very early in life, and death occurs soon afterward if the disease remains untreated. In later-onset Pompe disease, symptoms are slower to appear, and patients often progress to wheelchair confinement and eventual respiratory failure. A diagnosis can be made by screening for GAA in dried blood samples, followed either by GAA assessment in lymphocytes or in fibroblasts or by the genetic analysis of mutations. Treatment by enzyme replacement therapy (ERT) with alglucosidase alfa was approved for human use in 2006. In classical IOPD, treatment significantly lengthens survival and improves motor development and cardiac function. The sooner ERT begins, the better are the results. Newborn screening aims to take advantage of different technologies for diagnosing and treating newborns early on and it yields better outcomes. However, newborns diagnosed early and other long-term survivors may encounter fresh problems, making up a new phenotype of IOPD patients."
According to the news reporters, the research concluded: "Further modifications of the treatment, such as a decrease in immune responses to ERT, a higher dosage, a better uptake formulation, and gene therapy delivered locally or systemically are being explored."
For more information on this research see: Pompe disease: early diagnosis and early treatment make a difference. Pediatrics and Neonatology, 2013;54(4):219-27. (Elsevier - www.elsevier.com; Pediatrics and Neonatology - www.elsevier.com/wps/product/cws_home/720607)
Our news journalists report that additional information may be obtained by contacting Y.H. Chien, Dept. of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Additional authors for this research include W.L. Hwu and N.C Lee (see also Nutritional and Metabolic Diseases and Conditions).
Keywords for this news article include: Asia, Biotechnology, Taipei, Taiwan, Genetics, Treatment, Gene Therapy, Bioengineering, Pompe's Disease, Glycogen Storage Disease, Nutritional and Metabolic Diseases and Conditions.
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