A novel BCHE frameshift mutation in a Chinese woman with butyrylcholinesterase deficiency: A case report and literature review.

ABSTRACT:

Rationale

Congenital butyrylcholinesterase deficiency (BCHED) is a rare autosomal recessive genetic disorder caused by a pathogenic mutation in the BCHE gene. Patients with BCHED may experience prolonged apnea or even death after the application of drugs such as succinylcholine. We aimed to identify the genetic basis of disease in a patient presenting with butyrylcholinesterase deficiency in order to confirm the diagnosis, expand BCHE gene mutation spectrum, and elucidate potential genotype-phenotype associations to inform management.

Patient concerns

A 51-year-old woman presented with "vague pain in the upper and middle abdomen." Her serum cholinesterase level was 211 U/L (reference value 4000-13,000 U/L). Other laboratory findings were normal. Genetic analysis revealed com

SUBMITTER: Zeng J 

PROVIDER: S-EPMC11460908 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature