butyrylcholinesterase deficiency
Findings
No curated finding names butyrylcholinesterase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.
Definition from the Mondo Disease Ontology (MONDO:0015270), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Respiratory failureHPOHP:0002878
- Frequent (30% to 79% of cases)
- Abnormality of the liverHPOHP:0001392
- Very rare (1% to 4% of cases)
- Chronic infectionHPOHP:0031035
- Very rare (1% to 4% of cases)
- Congestive heart failureHPOHP:0001635
- Very rare (1% to 4% of cases)
- Myocardial infarctionHPOHP:0001658
- Very rare (1% to 4% of cases)
- Neoplasm
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BCHEHGNC:983
- Definitive · Ambry Genetics · Unknown · 2018
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: butyrylcholinesterase deficiency
- Also called
- apnea, postanesthetic, susceptibility to, due to BCHE deficiency