Living with Deficiency of butyrylcholinesterase
An inherited condition that makes the body very sensitive to certain muscle-relaxing drugs used in anesthesia.
Understanding Deficiency of butyrylcholinesterase
The drugs, such as succinylcholine and mivacurium, are given to relax muscles, including those used for breathing. Normally the body breaks them down in minutes. With this condition, a person may not be able to move or breathe on their own for a few hours and needs breathing support until the drug wears off.
Signs & symptoms
GARD lists this as the most common problem:
- Breathing failure after certain anesthesia drugs
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in BCHE are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the BCHE gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acholinesterasemia; apnea, postanesthetic, susceptibility to, due to bche deficiency; bche, silent 1; bched; butyrylcholinesterase deficiency; deficiency of benzoylcholinesterase
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Deficiency of butyrylcholinesterase.
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