Skip to content
Buy BioDecode
Genetics Library / Conditions / Pseudocholinesterase deficiency

CONDITION REFERENCE

Pseudocholinesterase deficiency

Information from MedlinePlus Genetics about this condition and how it can be inherited.

About this condition

Pseudocholinesterase deficiency, also called butyrylcholinesterase deficiency, is a condition that is characterized by an increased sensitivity to certain substances, including the medications succinylcholine and mivacurium. These medications may be given during general anesthesia. General anesthesia is typically used during major surgeries and causes a brief period of unconsciousness. Succinylcholine and mivacurium relax the muscles used for movement (skeletal muscles), including the muscles involved in breathing. 

Succinylcholine and mivacurium are typically broken down (metabolized) by the body within a few minutes of being administered. However, people with pseudocholinesterase deficiency do not metabolize these medications as quickly, so they remain active longer than usual. As a result, people with pseudocholinesterase deficiency may not be able to move or breathe on their own for a few hours after succinylcholine and mivacurium are administered. Affected individuals must be supported with a machine to help them breathe (mechanical ventilation) until the medications are cleared from the body.

People with pseudocholinesterase deficiency may also have an increased sensitivity to other substances, including cocaine and the local anesthetic procaine. Local anesthetics are used to numb a small area of the body. Affected individuals may also be more sensitive to specific agricultural pesticides. 

Because affected individuals typically have no other signs or symptoms, pseudocholinesterase deficiency is usually not discovered until a person has an abnormal reaction to one of these substances.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-09-25. Source review: 2025-09.

Inheritance

  • Autosomal recessive
  • Not inherited

A condition can have several forms with different inheritance patterns. Each pattern may apply to a different gene or form of the condition.

Related genes

MedlinePlus lists these genes for this condition. Open a gene page to read any available ClinGen reviews and ClinVar records.

YOUR DNA FILE

What can your DNA file tell you?

Your DNA file only includes the positions your test checked and reported. Consumer DNA kits usually test selected positions. Sequencing files can also leave out positions that were not reported or where the test could not give a result.

A variant missing from your file does not mean you tested negative for it. A ClinVar classification applies to a particular variant and the condition or finding it was reported for. It does not apply to everyone with that gene. An uncertain finding cannot establish a diagnosis.

BioDecode reads supported DNA files on your computer. It cannot fill gaps in your test, diagnose a condition or replace clinical testing.

Sources and dates

The source information on this page last changed on 2026-09-18.

MedlinePlus Source details

Open source record ↗

Source release: Fri, 18 Sep 2026 05:17:13 GMT
Source publication: 2025-09-25
Source review: 2025-09

SHA-256: fdc8bd614310c12718379cef6569962e5d0e791cecabcc355b53a72816ac263a

About the library sources · Latest validated release · Record 73aa81fc5282