Familial hypercholinesterasemia.
A case of familial hypercholinesterasemia was presented. Cholinesterase isoenzyme study revealed the extra C5 band nearer to the cathode than C4 on the gradient polyacrylamide gel electrophoresis in 6 out of 8 subjects in the family. No significant difference in the effect of inhibitors and activator on serum cholinesterase activity of the family with hypercholinesterasemia was found compared to that of the normal control. It was considered to be clinically useful for differential diagnosis of patients with elevated serum cholinesterase to find subjects with familial hypercholinesterasemia.
Ohkawa
J
J
Oimomi
M
M
Baba
S
S
D002800:Cholinesterase Inhibitors / Q000494:pharmacology; D002802:Cholinesterases / Q000097:blood* / Q000235:genetics; D003937:Diagnosis, Differential; D004789:Enzyme Activation; D005787:Gene Frequency; D006801:Humans; D007527:Isoenzymes / Q000097:blood / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
D002800:Cholinesterase Inhibitors; D007527:Isoenzymes; D002802:Cholinesterases