title: Hereditary cholinesterase deficiency: a report of a family with two rare genotypes.
abstract: Cholinesterase deficiency was detected in a young girl following an episode of postanesthesia apnea. Subsequently, plasma and serum cholinesterase levels and dibucaine numbers were determined on blood samples from 56 members of her extended family. Including the proband, three individuals were identified with severe cholinesterase deficiency and 12 were found to have mild abnormalities. The occurrence of two genetic variants regulating cholinesterase production, the "silent" gene and the atypical enzyme, is postulated to account for the unusual pattern of inheritance in this family. Screening family members of confirmed cases is essential to prevent the potentially fatal consequences of this hereditary disorder.
mesh_terms: D000293:Adolescent; D002091:Butyrylcholinesterase / Q000235:genetics; D002802:Cholinesterases / Q000172:deficiency*; D003992:Dibucaine; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D010375:Pedigree
chemical_list: D002091:Butyrylcholinesterase; D002802:Cholinesterases; D003992:Dibucaine