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:: Volume 10, Issue 1 (vol.10,no.1 2012) ::
G3M 2012, 10(1): 2667-2673 Back to browse issues page
Pomp Disease
Motahare - sadat Hashemi , Kamran Ghaedi
Abstract:   (7200 Views)

Pompe disease is an autosomal recessive genetic disorder caused by a deficiency or dysfunction of lysosomal hydrolase acid alpha-glucosidase (GAA). Pomp disease is classified by age of onset, organ involvement, severity and rate of progression. The most serious form of the disease is seen in newborns with the infantile form of the disease. Feeding difficulties, respiratory infections, and motor delay are the presenting symptoms. A milder course is seen in patients with late-onset forms of the disease. Symptoms may start at any age and are related to progressive dysfunction of skeletal muscles. The age of death usually depends on the rate of progression of the disease and degree of involvement of respiratory muscles. It varies from early childhood to late adulthood. Measurement of acid alpha-glucosidase enzyme activity is sued for detection of this disaes . The recombinant human GAA (rhGAA) is currently in clinical trials for enzyme replacement therapy of Pompe disease.

Keywords: Pomp disease, Acid alpha-glucosidase (GAA), Glycogen Storage disease type II, Aicd maltase deficiency
Full-Text [PDF 722 kb]   (3623 Downloads)    
Type of Study: Review | Subject: General
Received: 2012/09/20 | Accepted: 2016/12/18 | Published: 2016/12/18
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Hashemi M - S, Ghaedi K. Pomp Disease. G3M. 2012; 10 (1) :2667-2673
URL: http://g3m.ir/article-1-522-en.html
Volume 10, Issue 1 (vol.10,no.1 2012) Back to browse issues page
ژنتیک در هزاره سوم Genetics in the 3rd millennium
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