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butyrylcholinesterase deficiency

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description 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.
Uniprot Description An autosomal recessive metabolic condition characterized by increased sensitivity to certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium. BCHED results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency.
Mondo Term and Equivalent IDs
MONDO:0015270:  butyrylcholinesterase deficiency
GARD:0007482: 
MESH:C537417: 
Orphanet:132: 
SCTID:191397007: 
UMLS:C1283400: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found