Biomaterial Database

[A kin with a "silent" pseudocholinesterase gene (author's transl)]. 1975

R Ploier

After injection of short acting muscle relaxant suxamethonium on a 5-year-old boy during bronchography he was suffering from prolonged apnoe. Although using acetylthiocholin, butyrylthiocholin and benzoylcholin for tests we were not able to detect any activity of pseudocholinesterase in the patient's serum, Since there was no evidence of hepatic disease or hypoproteinemia, we supposed a genetically caused deficiency of serumcholinesterase. Examinations done on 18 members of this kin showed a complete absence of serumcholinesterase on 3 children (homozoygotes for "silent gene") and a significant decrease of pseudocholinesterase on 6 persons. It was not possible to detect the "silent gene" by counter immunelectrophoresis. The half value time after injection of purified human serumcholinesterase was between 8 to 9 days. Genetic aspects and clinical problems of the serumcholinesterase deficiency are discussed.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008661	Metabolism, Inborn Errors	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D001995	Bronchography	Radiography of the bronchial tree after injection of a contrast medium.	Bronchographies
D002091	Butyrylcholinesterase	An aspect of cholinesterase (EC 3.1.1.8).	Pseudocholinesterase,Benzoylcholinesterase,Butyrylthiocholinesterase
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D002802	Cholinesterases		Acylcholineacylhydrolase,Cholase,Cholinesterase
D005260	Female		Females