Antitrypsin (AAT) Deficiency‐α1


Alpha‐1‐antitrypsin deficiency is one of the more common metabolic disorders, and is usually associated with one common gene mutation. The deficiency results in increased susceptibility to chronic obstructive pulmonary disease and liver disease, both in childhood and adult life.

Keywords: serine proteinase inhibitor; serpin; emphysema; liver disease, PI types, lung


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Cox DW and Billingsley GD (1989) Rare deficiency types of α1‐antitrypsin: electrophoretic variation and DNA haplotypes. American Journal of Human Genetics 44: 844–854.

Cox DW and Smyth S (1983) Risk for liver disease in adults with α1‐antitrypsin deficiency. American Journal of Medicine 74: 221–227.

Cox DW, Woo SLC and Mansfield T (1985) DNA restriction fragments associated with α1‐antitrypsin indicate a single origin for deficiency allele PI Z. Nature 316: 79–81.

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Further Reading

Cox DW (2001) α1‐Antitrypsin deficiency. In: Scriver CR, Beaudet AL, Sly WS and Valle D (eds.) The Molecular and Metabolic Bases of Inherited Disease, 8th edn, pp. 5559–5586. New York, NY: McGraw‐Hill.

Faber J‐P, Poller W, Weidinger S, et al. (1994) Identification and DNA sequence analysis of 15 new α1‐antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. American Journal of Human Genetics 55: 1113–1121.

Lomas DA, Evans DL, Finch JT and Carrell RW (1992) The mechanism of Z α1‐antitrypsin accumulation in the liver. Nature 357: 605–607.

Perlmutter DH (1996) Alpha‐1‐antitrypsin deficiency: biochemistry and clinical manifestations. Annals of Medicine 28: 385–394.

Pierce JA (1997) α1‐Antitrypsin augmentation therapy [editorial comment]. Chest 112: 872–874.

Rollini P and Fournier RE (1997) A 370‐kb cosmid contig of the serpin gene cluster on human chromosome 14q32.1: molecular linkage of the genes encoding alpha 1‐antichymotrypsin, protein C inhibitor, kallistatin, alpha 1‐antitrypsin, and corticosteroid‐binding globulin. Genomics 46: 409–415.

Sveger T (1988) The natural history of liver disease in α1‐antitrypsin deficient children. Acta Paediatrica Scandinavica 77: 847–851.

Sveger T and Thelin T (2000) A future for neonatal alpha l‐antitrypsin screening? Acta Paediatrica 89: 628–631.

Web Links

Serine (or cysteine) proteinase inhibitor, clade A (alpha‐1 antiproteinase, antitrypsin), member 1 (SERPINA1); Locus ID: 5265. LocusLink:

Serine (or cysteine) proteinase inhibitor, clade A (alpha‐1 antiproteinase, antitrypsin), member 1 (SERPINA1); MIM number: 107400. OMIM:‐post/Omim/dispmim?107400

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How to Cite close
Cox, Diane W(Jan 2006) Antitrypsin (AAT) Deficiency‐α1. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0006101]