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Butyrylcholinesterase deficiency

A hereditary autosomal recessive condition caused by mutations in the BCHE gene. Affected individuals exhibit prolonged apnea after administration of the muscle relaxant SUXAMETHONIUM in connection with surgical ANESTHESIA. However,since the activity of pseudocholinesterase in serum is low and its substrate behavior is atypical, there are no other symptoms in the absence of relaxant. OMIM: 177400
Also Known As:
Acylcholine acylhydrolase deficiency; Apnea, Postanesthetic; Cholinesterase 2 Deficiency; Pseudocholinesterase E1 deficiency; Pseudocholinesterase deficiency; Succinylcholine Sensitivity; Suxamethonium Sensitivity
Networked: 66 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Paralysis (Palsy)
2. Apnea
3. Butyrylcholinesterase deficiency
4. Intraoperative Awareness
5. Autoimmune Polyendocrinopathies (Schmidt Syndrome)

Experts

1. Lockridge, Oksana: 4 articles (12/2014 - 04/2007)
2. Ceppa, Franck: 2 articles (12/2014 - 01/2014)
3. Delacour, Herve: 2 articles (12/2014 - 01/2014)
4. Lushchekina, Sofya: 2 articles (12/2014 - 01/2014)
5. Mabboux, Isabelle: 2 articles (12/2014 - 01/2014)
6. Masson, Patrick: 2 articles (12/2014 - 01/2014)
7. Schopfer, Lawrence M: 2 articles (12/2014 - 01/2014)
8. Duysen, Ellen G: 2 articles (03/2008 - 04/2007)
9. Li, Bin: 2 articles (03/2008 - 04/2007)
10. Acharya, S: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Butyrylcholinesterase deficiency:
1. EnzymesIBA
2. Remifentanil (Ultiva)FDA Link
3. Succinylcholine (Suxamethonium Chloride)FDA LinkGeneric
4. Cholinesterases (Cholinesterase)IBA
5. ButyrylcholinesteraseIBA
6. Mivacurium (Mivacron)FDA Link
7. Anesthetics (Anesthetic Agents)IBA
8. EstersIBA
9. Rocuronium (Zemuron)FDA LinkGeneric
10. Neuromuscular Blocking AgentsIBA

Therapies and Procedures

1. Anesthesia
2. Therapeutics
3. Fontan Procedure (Fontan Operation)
4. Cesarean Section (Caesarean Section)
5. General Anesthesia