Pseudocholinesterase deficiency
Pseudocholinesterase Deficiency
Pseudocholinesterase deficiency (pronounced soo-doh-koh-lin-ES-ter-ase de-fish-en-see) is a rare genetic disorder that affects the body's ability to break down certain types of anesthetic drugs.
Etymology
The term "Pseudocholinesterase" is derived from the Greek word "pseudo", meaning false, and "cholinesterase", a type of enzyme that breaks down certain neurotransmitters in the body. The term "deficiency" comes from the Latin word "deficientia", meaning lack or shortage.
Definition
Pseudocholinesterase deficiency is characterized by a decreased level of pseudocholinesterase, an enzyme that is primarily produced in the liver and is responsible for the rapid hydrolysis of certain types of drugs, including some muscle relaxants and local anesthetics. Individuals with this deficiency may experience prolonged effects of these drugs, which can lead to serious complications such as apnea or respiratory failure.
Symptoms
Symptoms of pseudocholinesterase deficiency can vary greatly depending on the individual and the specific drugs involved. However, common symptoms may include prolonged muscle weakness or paralysis, difficulty breathing, and in severe cases, respiratory failure.
Causes
Pseudocholinesterase deficiency is caused by mutations in the BCHE gene, which provides instructions for making the pseudocholinesterase enzyme. This condition is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations.
Diagnosis
Diagnosis of pseudocholinesterase deficiency is typically made through a blood test that measures the level of pseudocholinesterase enzyme activity. Genetic testing may also be performed to identify mutations in the BCHE gene.
Treatment
There is currently no cure for pseudocholinesterase deficiency. Treatment primarily involves avoiding certain drugs that can cause prolonged effects in individuals with this condition. In cases where these drugs are inadvertently administered, supportive care such as mechanical ventilation may be required.
Related Terms
External links
- Medical encyclopedia article on Pseudocholinesterase deficiency
- Wikipedia's article - Pseudocholinesterase deficiency
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