The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
Inherited pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. This gene provides instructions for making the pseudocholinesterase enzyme, known as butyrylcholinesterase. This enzyme is made by the liver and circulates in the blood. It is involved in breaking down (metabolizing) choline ester drugs. Mutations that cause pseudocholinesterase deficiency either impair the function or production of butyrylcholinesterase. This impairs the body's ability to effectively metabolize choline ester drugs, leading to the abnormally prolonged effects of these drugs.
Acquired pseudocholinesterase deficiency is not inherited and cannot be passed to the next generation. This form of the condition is caused by impairment of the enzyme's function due to factors such as kidney or liver disease, malnutrition, major burns, cancer, or certain drugs.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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If one has acquired pseudocholinesterase deficiency due to malabsorption/malnutrition, does improvement in nutrition result in reversal of the deficiency (i.e. normalization of anesthesia response)? See answer
Are there any symptoms or effects of pseudocholinesterase deficiency that are not specifically related to anaesthesia, for example in normal daily life? See answer
I am looking for information about pseudocholinesterase deficiency in layman's terms for myself and others. Can you tell me more about this condition? See answer
I was told that I had pseudocholinesterase deficiency after I experienced difficulty in the resumption of breathing following surgery with general anesthesia. Is there a test that can verify this diagnosis? Are my children at risk for this condition? See answer