Family of a patient with serum cholinesterase deficiency.
A-39-year-old man was admitted to our hospital because of a markedly decreased level of serum cholinesterase found incidentally by a blood test. Detailed examination did not reveal severe liver disease, malignant tumor, infection or organophosphate compound poisoning. Investigation of three generations of his family revealed two homozygous and five heterozygous family members with the cholinesterase deficiency gene E1s indicating familial serum cholinesterase deficiency.
Ohara
M
M
Department of Internal Medicine, Mitoyo General Hospital, Kagawa, Japan.
Hirohata
M
M
Toshimori
T
T
Miyatani
H
H
Okamoto
R
R
Hirasaki
S
S
Kumashiro
H
H
Moritani
H
H
Tominaga
Y
Y
Imai
M
M
D000328:Adult; D002091:Butyrylcholinesterase / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype
D002091:Butyrylcholinesterase