You are here: Home :: Area NEM :: Medical science :: Human medicine

Alexander Semmler, Robert W. Stein, Luis Caplan, Sergei M. Danilov, Thomas Klockgether, Michael Linnebank

Hereditary hyper-ACE-emia due to the Pro1199Leu mutation of somatic ACE as a potential pitfall in diagnosis: a first family outside Europe

Keywords: angiotensin-converting enzyme (ACE), dominant gene, mutation

Elevated plasma levels of angiotensin converting enzyme (ACE) are associated with granulomatous diseases. However, several families of autosomal dominant hyper-ACE-emia without disease association have already been reported. Recently, the ACE mutation c.3705C>T (Pro1199Leu) was identified as the genetic correlate in European cases of asymptomatic autosomal dominant hyper-ACE-emia. Here, we describe a first family outside Europe with asymptomatic autosomal-dominant hyper-ACE-emia due to the ACE Pro1199Leu mutation. Benign autosomal-dominant hyper-ACE-emia should be considered for differential diagnosis of elevated ACE levels worldwide.

Clin Chem Lab Med 2006;44:1088–9.

Clinical Chemical Laboratory Medicine, Walter de Gruyter

Print ISSN: 1434-6621
Volume: 44, 09/2006
Pages: 1088 - 1089

Show full article (external site)

Show all available items of this journal

 

Area NEM