Hereditary butyrylcholinesterase deficiency
Synonyms: Hereditary pseudocholinesterase deficiency
Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Hereditary butyrylcholinesterase deficiency?
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Advocacy Organizations
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
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