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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]
Alpha-1 antitrypsin deficiency is an autosomal disorder that results in disease of the lungs and liver, and afflicts roughly 10,000 patients worldwide. AAT is a liver-produced serine proteinase ...
Although clinically debated, [6] [7] the Dutch hypothesis remains one of four main plausible explanations which could help explain the complex pathogenesis of COPD, others being the protease-antiprotease hypothesis (involving alpha 1-antitrypsin overexpression and consequent alpha-1 proteinase deficiency), the British hypothesis (regarding a ...
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 ...
Genetic causes of hepatitis include alpha-1-antitrypsin deficiency, hemochromatosis, and Wilson's disease. [32] In alpha-1-antitrypsin deficiency, a co-dominant mutation in the gene for alpha-1-antitrypsin results in the abnormal accumulation of the mutant AAT protein within liver cells, leading to liver disease. [51]
Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder of low levels of the enzyme alpha-1 antitrypsin [32] Cardiac cirrhosis is due to chronic right-sided heart failure, which leads to liver congestion [32] Galactosemia [57] Glycogen storage disease type IV [44] Cystic fibrosis [32]
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]
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