[Evaluation of serum angiotensin converting enzyme [ACE] activity in type 1 Gaucher's patient and its relationship to ACE gene insertion/deletion in intron 16]

ABSTRACT

Background: Gaucher's disease is an autosomal recessive disease which is the result of mutations in the P glucocerebrosidase gene. The aim of this study was to evaluate activity level of ACE enzyme Iranian patients with Gaucher's disease type I, and also polymorphism I/D in intron 16 of ACE gene, as a marker in diagnosis and monitoring of disease