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.
The inherited form of the condition is caused by mutations (changes) in the genes that produce pseudocholinesterase. The mutations cause the gene to produce inadequate amounts of pseudocholinesterase or to produce abnormal forms of the enzyme. Individuals that have only one mutated pseudocholinesterase gene have partial deficiency in enzyme activity, which results in a slightly prolonged duration of paralysis, longer than 5 minutes but shorter than 1 hour, following the administration of succinylcholine. Less than 0.1% of the general population carries two mutated copies of the pseudocholinesterase gene that will produce clinically significant effects from succinylcholine lasting longer than 1 hour.
The acquired causes of pseudocholinesterase deficiency include the following: chronic infections, extensive burn injuries, liver disease, cancer, malnutrition, and taking certain medications.
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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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