alpha 1-antitrypsin deficiency

(redirected from Alpha-1 proteinase inhibitor)

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 ?
AATD allele nomenclature was established based on electrophoretic migration of the alpha-1 proteinase inhibitor (AAT) before the encoding SERPINA1 gene was identified.
SMC chairman Professor Jonathan Fox said: "We were unable to accept human alpha-1 proteinase inhibitor for severe emphysema we were not satisfied evidence on its long-term benefits would justify the cost."
The principal components of the global blood plasma market are immunoglobulin, albumin, factor VIII and Alpha-1 proteinase inhibitor (A1PI) or alpha-1 antitrypsin (AAT).
It is a highly purified Alpha-1 protein derived from human plasma and is reportedly the only Alpha-1 proteinase inhibitor that has been proven in a prospective double blind, placebo controlled trial (the RAPID study) to significantly reduce the loss of lung tissue, slowing the progression of emphysema due to Alpha-1 antitrypsin deficiency.
Up to 40,000 people in the United States have a genetic deficiency of the protein, alpha-1 proteinase inhibitor, also known as alpha-1 antitrypsin (SN: 5/2/87, p.277).
(NASDAQ: KMDA) (TASE: KMDA) and Germany's Pari Pharma GMBH a the patent titled, "SYSTEM FOR PULMONARY DELIVERY OF ALPHA-1 PROTEINASE INHIBITOR" under patent number, 193318, the company said on Wednesday.
In terms of product type, the plasma protein therapeutics market comprises coagulation factors, immunoglobulins, C1-esterase inhibitors, albumins, and others (alpha-1 proteinase inhibitors and hyperimmune globulin).

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