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Alpha-1 Antitrypsin Deficiency as related to Wilson's Disease


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AAT; alpha-1 proteinase inhibitor; alpha-1 related emphysema; genetic emphysema; hereditary pulmonary emphysema; inherit... 

Copper storage disease; Hepatolenticular Degeneration; Hepatolenticular degeneration syndrome; WD - Wilson's disease; Wi... 

Alpha-1 is an inherited disorder that may result in you developing a serious lung/ liver disease and passing the defective AAT gene onto your children. An estimated 100,000 people in the U.S. and a similar number in Europe are estimated to have the severe deficiency. In normal individuals large amounts of alpha-1 antitrypsin (AAT) is made in the liver and released into the blood. In AAT deficient individuals, the AAT made in the liver cannot be fully released into the blood.

Wilson's disease is an inherited disorder in which excessive amounts of copper accumulate in the body. Although the accumulation of copper begins at birth, symptoms of the disorder appear later in life, between the ages of 6 and 40. The primary consequence for approximately 40 percent of patients with Wilson's is liver disease. In other patients the first symptoms are either neurological or psychiatric or both, and include tremor, rigidity, drooling, difficulty with speech, abrupt personality ch...


Alpha-1 Antitrypsin Deficiency as related to Wilson's Disease


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December 4, 2009


Page Updated: January 17, 2009
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