Complete Pseudocholinesterase Deficiency: Genetic and Immunologic Characterization*

De novo amplification within a "silent" human cholinesterase gene in a family subjected to prolonged exposure to organophosphorous insecticides.

“…The occurrence of the silent BtChoEase phenotype in the H family was brought to our attention when one of its members, I.T., suffered from characteristic prolonged apnea (22) (23).…”

Silent cholinesterase gene: variations in the properties of serum enzyme in apparent homozygotes

“…viduals thought to be homozygotes for the silent cholinesterase gene. Many reports, including the original case (1), state that such sera have no detectable activity (1)(2)(3)(4)(5)(6)(7)(8)(9)(10). Several sera, however, showed "trace" activity (2)(3)(4).…”

A Patient with Prolonged Paralysis

“…There are 2 known fluoride-resistant mutations, but their frequency is very rare (1 in 150 000 individuals) (7 ). Individuals with the rare silent (S) phenotype completely lack or have only minimal BChE activity (8 ).…”