Alpha 1 antitrypsin deficiency due to MMaltonZ phenotype: case report and family study.

Abstract

The association between premature development of emphysema and aI antitrypsin deficiency is well recognised.1 By the technique of isoelectric focusing on polyacrilamide gel, over 30 different alleles of a, antitrypsin have been identified.2 Only four of these-namely, Z, MMaduarte, Mnuil' and MMalton produce grossly reduced levels of al anti- trypsin, with the subsequent risk of emphysema in homozygotes and heterozygotes. In practice, however, only the ZZ phenotype, with a frequency of 0.029%, is seen with any regularity.3 We report the first case history and family study in Europe of a, antitrypsin deficiency due to the MMaIIOnZ phenotype.