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Pseudocholinesterase deficiency

MedGen UID:
78667
•Concept ID:
C0268379
•
Disease or Syndrome
Synonym: Cholinesterase 2 Deficiency
Drug:
succinylcholine
MedGen UID:
20999
•Concept ID:
C0038627
•
Pharmacologic Substance
A quaternary ammonium compound and depolarizing agent with short-term muscle relaxant properties. Succinylcholine binds to nicotinic receptors at the neuromuscular junction and opening the ligand-gated channels in the same way as acetylcholine, resulting in depolarization and inhibition of neuromuscular transmission. Depolarization may be prolonged due to succinylcholine''s resistance to acetylcholinesterases thereby leading to disorganized muscle contraction followed by skeletal muscle relaxation and flaccid paralysis. [from NCI]
succinylcholine
 
OMIM®: 617936

Professional guidelines

PubMed

Genetic screening in the Persian Jewish community: A pilot study.
Kaback M, Lopatequi J, Portuges AR, Quindipan C, Pariani M, Salimpour-Davidov N, Rimoin DL
Genet Med 2010 Oct;12(10):628-33. doi: 10.1097/GIM.0b013e3181edef5b. PMID: 20733503

Recent clinical studies

Etiology

Pseudocholinesterase Deficiency: What the Proceduralist Needs to Know.
Robles A, Michael M, McCallum R
Am J Med Sci 2019 Mar;357(3):263-267. Epub 2018 Nov 10 doi: 10.1016/j.amjms.2018.11.002. PMID: 30578021
Delayed Emergence From Anesthesia: A Simulation Case for Anesthesia Learners.
Ellis TA, Edberg JL, Kumar N, Applefield DJ
MedEdPORTAL 2017 Sep 18;13:10628. doi: 10.15766/mep_2374-8265.10628. PMID: 30800829Free PMC Article
Genetic screening in the Persian Jewish community: A pilot study.
Kaback M, Lopatequi J, Portuges AR, Quindipan C, Pariani M, Salimpour-Davidov N, Rimoin DL
Genet Med 2010 Oct;12(10):628-33. doi: 10.1097/GIM.0b013e3181edef5b. PMID: 20733503
Acquired pseudocholinesterase deficiency after high-dose cyclophosphamide.
Koseoglu V, Chiang J, Chan KW
Bone Marrow Transplant 1999 Dec;24(12):1367-8. doi: 10.1038/sj.bmt.1702097. PMID: 10627651

Diagnosis

A prolonged paralysis with succinylcholine in pseudocholinesterase deficiency: an undesired effect.
Acharya S, Bhattarai S, Shrimanker I, Gupta SS
QJM 2022 Aug 13;115(8):547-548. doi: 10.1093/qjmed/hcac103. PMID: 35426937
Takotsubo cardiomyopathy and anaesthesia: case report and review of the literature.
de Boer HD, Booij LH
Rev Esp Anestesiol Reanim 2014 May;61(5):284-9. Epub 2013 Jun 21 doi: 10.1016/j.redar.2013.04.014. PMID: 23796841
A case of pseudocholinesterase deficiency in the PACU.
Leadingham CL
J Perianesth Nurs 2007 Aug;22(4):265-71; quiz 272-4. doi: 10.1016/j.jopan.2007.05.005. PMID: 17666297
COMPLETE PSEUDOCHOLINESTERASE DEFICIENCY: GENETIC AND IMMUNOLOGIC CHARACTERIZATION.
HODGKIN W, GIBLETT ER, LEVINE H, BAUER W, MOTULSKY AG
J Clin Invest 1965 Mar;44(3):486-93. doi: 10.1172/JCI105162. PMID: 14271308Free PMC Article
LEFT-SIDED AMOEBIC LIVER ABSCESS WITH PULMONARY INVOLVEMENT, PERICARDITIS, AND PSEUDOCHOLINESTERASE DEFICIENCY.
MULLAN DP, WILLIAMS NE
Br Med J 1965 Jan 23;1(5429):235-6. doi: 10.1136/bmj.1.5429.235. PMID: 14228159Free PMC Article

Therapy

A prolonged paralysis with succinylcholine in pseudocholinesterase deficiency: an undesired effect.
Acharya S, Bhattarai S, Shrimanker I, Gupta SS
QJM 2022 Aug 13;115(8):547-548. doi: 10.1093/qjmed/hcac103. PMID: 35426937
Takotsubo cardiomyopathy and anaesthesia: case report and review of the literature.
de Boer HD, Booij LH
Rev Esp Anestesiol Reanim 2014 May;61(5):284-9. Epub 2013 Jun 21 doi: 10.1016/j.redar.2013.04.014. PMID: 23796841
Heterozygous pseudocholinesterase deficiency: a case report and review of the literature.
Maiorana A, Roach RB Jr
J Oral Maxillofac Surg 2003 Jul;61(7):845-7. doi: 10.1016/s0278-2391(03)00163-0. PMID: 12856264
Letter: chloroprocaine and pseudocholinesterase deficiency.
Wheeler M
JAMA 1975 Aug 18;233(7):770. PMID: 1173871
Pseudocholinesterase deficiency.
Glasgow JF, Elwood JH
J Ir Med Assoc 1968 Aug;61(374):269-72. PMID: 5664914

Prognosis

Customized anesthetic preservation of ictal threshold in electroconvulsive therapy: role of adjunctive remifentanil with etomidate.
Augoustides JG, Hosalkar HH, O'Reardon JP, Kofke WA, Datto CJ
J ECT 2005 Jun;21(2):128-31. doi: 10.1097/01.yct.0000167463.71704.52. PMID: 15905758

Clinical prediction guides

Acetylcholinesterase activity in cerebrospinal fluid of patients with Alzheimer's disease and senile dementia.
Nakano S, Kato T, Nakamura S, Kameyama M
J Neurol Sci 1986 Sep;75(2):213-23. doi: 10.1016/0022-510x(86)90096-1. PMID: 3760912

Recent systematic reviews

Pseudocholinesterase deficiency in ophthalmology: a systematic review.
Cheng T, Curley M, Barmettler A
Orbit 2024 Jun;43(3):429-437. Epub 2023 Jan 20 doi: 10.1080/01676830.2023.2166083. PMID: 36661099

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