Pseudocholinesterase Deficiency malady

Genetics Home Reference: Pseudocholinesterase deficiency is a condition that results in increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. These fast-acting drugs, such as succinylcholine and mivacurium, are given to relax the muscles used for movement (skeletal muscles), including the muscles involved in breathing. The drugs are often employed for brief surgical procedures or in emergencies when a breathing tube must be inserted quickly. Normally, these drugs are broken down (metabolized) by the body within a few minutes of being administered, at which time the muscles can move again. However, people with pseudocholinesterase deficiency may not be able to move or breathe on their own for a few hours after the drugs are administered. Affected individuals must be supported with a machine to help them breathe (mechanical ventilation) until the drugs are cleared from the body.¹⁷

MalaCards: Pseudocholinesterase Deficiency, also known as butyrylcholinesterase deficiency, is related to hellp syndrome and ovarian hyperstimulation syndrome. An important gene associated with Pseudocholinesterase Deficiency is BCHE (butyrylcholinesterase). Affiliated tissues include skeletal muscle.

NIH Rare Diseases: Pseudocholinesterase deficiency is an enzyme abnormality that results in abnormally slow metabolic breakdown of choline ester drugs such as succinylcholine. This condition is recognized most often when respiratory paralysis unexpectedly persists for a prolonged period of time following administration of standard doses of succinylcholine. Pseudocholinesterase deficiency may be inherited or acquired.³⁰

Wikipedia: Pseudocholinesterase deficiency is an inherited blood plasma enzyme abnormality. People who have this...⁴⁴ more...

pseudocholinesterase deficiency 30 17 32 43 butyrylcholinesterase deficiency 30 16 17 43 suxamethonium sensitivity 30 17 43 succinylcholine sensitivity 30 17 apnea, postanesthetic 30 33

deficiency of butyrylcholine esterase 17 cholinesterase ii deficiency 17 cholinesterase 2 deficiency 30 pseudocholinesterase e1 30

Diseases related to pseudocholinesterase deficiency by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	hellp syndrome	6.4
2	ovarian hyperstimulation syndrome	6.4
3	alzheimer's disease	6.1
4	scoliosis	6.1

Approved drugs:

Drug clinical trials:

Genetic tests related to pseudocholinesterase deficiency:

id	Genetic test	Affiliating Genes
1	Pseudocholinesterase Deficiency clinical/research	BCHE

MalaCards organs/tissues related to pseudocholinesterase deficiency:

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Articles related to pseudocholinesterase deficiency:

(show all 12)

id	Title	Authors	Year	Affiliating Genes
1	Safe use of landiolol hydrochloride in a patient with marked pseudocholinesterase deficiency. (20155298)	Shiotsuka J.... Lefor A.	2010	BCHE
2	Pseudocholinesterase deficiency: a comprehensive revi ew of genetic, acquired, and drug influences. (20879632)	Soliday F.K.... Henker R.	2010	BCHE
3	A case of pseudocholinesterase deficiency in the PACU. (17666297)	Leadingham C.L.	2007	BCHE
4	Prehospital airway management complicated by reported pseudocholinesterase deficiency. (17613911)	Whyte A.J.... Wang H.E.	2007	BCHE
5	Pseudocholinesterase deficiency and electroconvulsive therapy. (17805000)	Williams J.... McCall W.V.	2007	BCHE
6	Pseudocholinesterase deficiency associated with HELLP syndrome. (15311366)	Lurie S.... Ezri T.	2004	BCHE
7	Prolonged neuromuscular blockade as a result of malnutrition-induced pseudocholinesterase deficiency. (14984858)	Niazi A.... O'Kelly B.	2004	BCHE
8	Heterozygous pseudocholinesterase deficiency: a case report and review of the literature. (12856264)	Maiorana A.... Roach R.B.	2003	BCHE
9	A case of pseudocholinesterase deficiency in the neonate. (10614702)	Ho V.W.... Osiovich H.	1999	BCHE
10	Acquired pseudocholinesterase deficiency after high-dose cyclophosphamide. (10627651)	Koseoglu V.... Chan K.W.	1999	BCHE
11	Pseudocholinesterase deficiency: a dangerous, unrecognized complication of the ovarian hyperstimulation syndrome. (10370752)	Southgate H.J.... Rymer M.J.	1999	BCHE
12	Remifentanil's effect is not prolonged in a patient with pseudocholinesterase deficiency. (10439780)	Manullang J.... Egan T.D.	1999	BCHE

Genes related to pseudocholinesterase deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	BCHE	butyrylcholinesterase	11.0	Publications, Disorders