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

@article{Semmler2006HereditaryHD,
  title={Hereditary hyper-ACE-emia due to the Pro1199Leu mutation of somatic ACE as a potential pitfall in diagnosis: a first family outside Europe.},
  author={Alexander Semmler and Robert W Stein and Luis Caplan and Sergei M Danilov and Thomas Klockgether and Michael Linnebank},
  journal={Clinical chemistry and laboratory medicine},
  year={2006},
  volume={44 9},
  pages={1088-9}
}
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… CONTINUE READING