butyrylcholinesterase deficiency

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butyrylcholinesterase deficiency2016-11-25T01:55:49+00:00

butyrylcholinesterase deficiency

METABOLISM

Definition A metabolic disorder (OMIM:177400) characterised by prolonged apnoea after the use of certain anaesthetics–e.g., including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the apnoea varies significantly depending on the extent of the enzyme deficiency.

Molecular pathology Defects of BCHE, which encodes butyrylcholinesterase, cause butyrylcholinesterase deficiency. 

Synonyms Acholinesterasaemia (included), apnoea—post anaesthetic, BChE deficiency, butyrylcholinesterase deficiency—fluoride-resistant—Japanese type, pseudocholinesterase deficiency, suxamethonium sensitivity 

References http://www.uniprot.org/uniprot/P06276

http://www.omim.org/entry/177400 

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