Familiar hypercholinesterasemia. A case report.
A 58-year-old female who had a serum cholinesterase activity four times higher than normal is described. Investigation of her family revealed that five out of seven tested had high level of serum cholinesterase activity. The family distribution of the increased cholinesterase suggests that the inheritance is transmitted in a autosomal dominant manner. Analysis of the isoenzyme of serum cholinesterase of five cases including the patient showed that none of them had extracomponent (C5) of the cholinesterase. Examination of anti-cholinesterase antibodies in her serum was negative. Molecular weight of her serum cholinesterase by HPLC analysis was not different from that of a healthy subject. It was speculated that the overproduction of usual components (C1, C2, C3, C4), decreased clearance of cholinesterase by a certain mechanism(s), and/or the presence of cholinesterase which has more active catalysis could be responsible for her and her family's hypercholinesterasemia.
D002802:Cholinesterases / Q000097:blood; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000201:enzymology / Q000235:genetics*; D007527:Isoenzymes / Q000097:blood; D008875:Middle Aged; D008970:Molecular Weight
D007527:Isoenzymes; D002802:Cholinesterases