Ad
related to: what alpha 1 antitrypsin deficiency
Search results
Results from the WOW.Com Content Network
Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. [1] Onset of lung problems is typically between 20 and 50 years of age. [ 1 ] This may result in shortness of breath , wheezing , or an increased risk of lung infections .
Alpha-1 antitrypsin or α 1-antitrypsin (A1AT, α 1 AT, A1A, or AAT) is a protein belonging to the serpin superfamily. It is encoded in humans by the SERPINA1 gene.A protease inhibitor, it is also known as alpha 1 –proteinase inhibitor (A1PI) or alpha 1-antiproteinase (A1AP) because it inhibits various proteases (not just trypsin). [5]
John W. Walsh (February 4, 1949 – March 7, 2017) was an American non-profit leader and patient advocate.After being diagnosed with alpha-1 antitrypsin deficiency, he co-founded the Alpha-1 Foundation and AlphaNet, both of which serve people diagnosed with that condition, and the COPD Foundation, which serves people with chronic obstructive pulmonary disease.
Vertex Pharmaceuticals Inc (NASDAQ: VRTX) has advanced its investigational program targeting alpha-1 antitrypsin deficiency (AATD), a rare genetic disease characterized by a protein folding defect ...
Elastase is inhibited by the acute-phase protein α 1-antitrypsin (A1AT), which binds almost irreversibly to the active site of elastase and trypsin. A1AT is normally secreted by the liver cells into the serum. Alpha-1 antitrypsin deficiency (A1AD) leads to uninhibited destruction of elastic fibre by elastase; the main result is emphysema.
Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder of low levels of the enzyme alpha-1 antitrypsin [33] Cardiac cirrhosis is due to chronic right-sided heart failure, which leads to liver congestion [33] Galactosemia [58] Glycogen storage disease type IV [45] Cystic fibrosis [33]
Alpha 1-antitrypsin deficiency; Alpha-2 deficient collagen disease; Alpha-ketoglutarate dehydrogenase deficiency; Alpha-L-iduronidase deficiency; Alpha-mannosidosis; Alpha-sarcoglycanopathy; Alpha-thalassemia; Alpha thalassemia abnormal morphogenesis; Alpha-thalassemia mental retardation syndrome; Alport syndrome. Alport syndrome, dominant type
Liver damage is also a clinical feature of alpha 1-antitrypsin deficiency [11] and glycogen storage disease type II. [12] In transthyretin-related hereditary amyloidosis, the liver produces a mutated transthyretin protein which has severe neurodegenerative or cardiopathic effects. Liver transplantation can be curative. [13]
Ad
related to: what alpha 1 antitrypsin deficiency