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Hereditary cholinesterase deficiency: A report of a family with two rare genotypes
Author(s) -
Baker Edward L.,
Smrek Ann,
Kimbrough Renate D.,
Hudgins Michael,
Landrigan Philip J.,
Liddle John A.
Publication year - 1977
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1977.tb00916.x
Subject(s) - proband , cholinesterase , dibucaine , genetics , medicine , genotype , endocrinology , biology , gene , mutation , biochemistry
Cholinesterase deficiency was detected in a young girl following an episode of post‐anesthesia 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.