PSEUDOCHOLINESTERASE DEFICIENCY Meaning and
Definition
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Pseudocholinesterase deficiency, also known as plasma cholinesterase deficiency or butyrylcholinesterase deficiency, is a rare genetic disorder characterized by the insufficient production or abnormal functioning of the enzyme pseudocholinesterase (also called butyrylcholinesterase). This enzyme is primarily found in the plasma and liver and is responsible for breaking down or metabolizing certain medications and substances, including certain neuromuscular blocking agents and local anesthetics.
Individuals with pseudocholinesterase deficiency may experience prolonged and exaggerated effects of these substances, as their bodies are unable to adequately clear them from the system. This can result in an increased sensitivity or exaggerated response to certain medications, leading to prolonged paralysis, muscle weakness, or other adverse effects.
An inherited disorder, pseudocholinesterase deficiency is typically caused by mutations in the BCHE gene, which provides instructions for the production of pseudocholinesterase. The condition can be inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder.
Diagnosis of pseudocholinesterase deficiency is usually confirmed through laboratory tests that measure the levels and activity of pseudocholinesterase in the blood. Treatment for this condition varies depending on the specific symptoms and the substances involved, but may involve avoiding or adjusting the dosage of medications that are problematic for individuals with pseudocholinesterase deficiency.
It is important for individuals with pseudocholinesterase deficiency to inform their healthcare providers about their condition to ensure appropriate management of medications and anesthesia. Genetic counseling may also be recommended for affected individuals and their families.
Etymology of PSEUDOCHOLINESTERASE DEFICIENCY
The word "pseudocholinesterase deficiency" is composed of several components:
1. Pseudo-: derived from the Greek word "pseudḗs", meaning false or deceptive. It is commonly used as a prefix to indicate something that is fake, resembling, or similar to a particular thing.
2. Cholinesterase: The term "cholinesterase" refers to a group of enzymes that break down the neurotransmitter acetylcholine in the body. "Cholinesterase" combines "choline", a molecule involved in the synthesis of acetylcholine, and "esterase", an enzyme that breaks down esters.
3. Deficiency: Derived from the Latin word "deficientia", meaning lack or shortage. "Deficiency" is used to describe a condition or state of lacking or being inadequate in something essential.
