alpha 1-antitrypsin deficiency


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alpha 1-antitrypsin deficiency

A disorder caused most frequently by a mutation in the SERPINA 1 gene, causing the Z-allele with a substitution of lysine for glutamic acid at position 342. Alpha 1-antitrypsin is mainly produced in the liver and is protective against the proteolytic enzyme neutrophil elastase that can damage the air sacs in the lungs and the cells of the liver. People with alpha 1-antitrypsin deficiency are more prone than normal to EMPHYSEMA and to certain forms of liver disease. It is responsible for 25 per cent of deaths from juvenile liver cirrhosis. A strong case has been made that this was the disease from which the composer Frédéric Chopin died.
References in periodicals archive ?
A subtle clue to the histopathologic diagnosis of early alpha 1-antitrypsin deficiency panniculitis.
Steven Tuffin, 27, of Maghull, was born with a rare genetic liver condition - alpha 1-antitrypsin deficiency.
The paper describes highly specific and efficient ZFN-mediated correction of a defective human A1 AT gene in iPSCs derived from skin cells from individuals with alpha 1-antitrypsin deficiency (A1ATD).
The paper describes highly specific and efficient ZFN-mediated correction of a defective human A1AT gene in iPSCs derived from skin cells from individuals with alpha 1-antitrypsin deficiency (A1ATD).
Serum alpha 1-antitrypsin deficiency associated with the common S-type (glu264--val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion.
The research is being applied to diseases such as cystic fibrosis, a genetic lung and liver disorder called alpha 1-antitrypsin deficiency, inherited metabolic disorders such as lysosomal storage disease, and a fatal progressive nerve disease called Canavan disease; as well as eye disorders such as
According to Halperin, the 50-year-old has been diagnosed with Alpha 1-antitrypsin deficiency, a genetic condition that can be fatal in severe cases.
Alpha 1-antitrypsin Null (isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons.
Screening for homozygous and heterozygous alpha 1-antitrypsin deficiency.
Mum-of-one Pauline, 41, of Edinburgh, a former nurse at the city's Royal Infirmary who has Alpha 1-antitrypsin deficiency, is now campaigning for all Scots lung disease sufferers to get oxygen at a cost of pounds 450 a month.
Despite these successful results, Crystal predicts that emphysema caused by alpha 1-antitrypsin deficiency will probably not be the first human disease treated by nasally administered gene therapy, since the disease is already treatable by other means.