Presentation
The author presents an approach to solving clinical problems with genetic components rather than on the presentation of facts that would soon fall out of date. The text is problem-oriented. [books.google.com]
Butyrylcholinesterase, which is synthesized in liver and is not present at the NMJ, rapidly hydrolizes succinylcholine to succinylmonocholine and choline. Note that only 10% of administered succinylcholine reaches neuromuscular junction. [openanesthesia.org]
Acholinesterasemia Fluoride-resistant butyrylcholinesterase deficiency Japanese type Fluoride-resistant hypocholinesterasemia Japanese type Postanesthetic apnea Pseudocholinesterase deficiency Suxamethonium sensitivity Any medical or genetic information present [uniprot.org]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Entire Body System
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Malnutrition
[…] butrylcholinesterase, resulting in suxamethonium/succinylcholine sensitivity, causing prolonged apnea after receiving suxamethonium, which may be exacerbated by liver dysfunction, TB, collagen vascular disease, acute infection, cancer, chronic anaemia, malnutrition [medical-dictionary.thefreedictionary.com]
Butyrylcholinesterase (Pseudocholinesterase) Deficiency: Levels can be affected by liver disease, advanced age, malnutrition, pregnancy, burns, OCP, etc. [openanesthesia.org]
However, BChE deficiency and sensitivity to anaesthetic drugs may also occur during pregnancy, in neonates or in association with other pathologies (chronic infections, malnutrition, liver disease, certain cancers etc. ). [orpha.net]
Acquired pseudocholinesterase deficiency may have various causes such as chronic infection, kidney or liver disease, malnutrition, major burns, cancer, or various medications. [1] [2] Last updated: 9/16/2016 [rarediseases.info.nih.gov]
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Chronic Infection
However, BChE deficiency and sensitivity to anaesthetic drugs may also occur during pregnancy, in neonates or in association with other pathologies (chronic infections, malnutrition, liver disease, certain cancers etc. ). [orpha.net]
Acquired pseudocholinesterase deficiency may have various causes such as chronic infection, kidney or liver disease, malnutrition, major burns, cancer, or various medications. [1] [2] Last updated: 9/16/2016 [rarediseases.info.nih.gov]
Pseudocholinesterase(Butyrylcholinesterase) deficiency may be caused by: Pseudocholinesterase( Butyrylcholinesterase) deficiency may be caused by Acquired physiological condition like –Neonates, Pregnant women, elderly individual Pathological condition –chronic [authorstream.com]
Pathologic conditions that may lower plasma pseudocholinesterase activity include the following: Chronic infections (tuberculosis). Extensive burn injuries. Liver disease. Malignancy. Malnutrition. Organophosphate pesticide poisoning. Uremia. [medigoo.com]
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Asymptomatic
Furthermore, individuals deficient in BChE appear asymptomatic, apart from a heightened sensitivity to the muscle relaxants suxamethonium and mivacurium, two BChE substrates used as myorelaxant. [ncbi.nlm.nih.gov]
Management and treatment Affected individuals are asymptomatic unless exposed to neuromuscular blocking agents, however, prolonged respiratory paralysis following anaesthesia makes mechanical ventilation essential until the excess aesthetic agent is metabolised [orpha.net]
Patient was found to be asymptomatic on follow-up. PowerPoint Presentation: A final diagnosis of pseudocholinesterase deficiency causing delayed neuromuscular recovery from general anesthesia was made. [authorstream.com]
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Unconsciousness
But the patient was still unconscious 30 min after the operation. [springerplus.springeropen.com]
Liver, Gall & Pancreas
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Jaundice
Renal tubular disorders and renal stone disease 168 Clinical biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice [books.google.com]
Avoid in newborns due to the potential for an increase in free bilirubin, jaundice, and development of kernicterus. [livingnaturally.com]
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Liver Dysfunction
An autosomal recessive MIM 177400 defect in butrylcholinesterase, resulting in suxamethonium/succinylcholine sensitivity, causing prolonged apnea after receiving suxamethonium, which may be exacerbated by liver dysfunction, TB, collagen vascular disease [medical-dictionary.thefreedictionary.com]
Musculoskeletal
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Osteoporosis
Transcarbamylase Deficiency Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta, Type II Osteogenesis Imperfecta, Type III Osteogenesis Imperfecta, Type IV Osteogenesis Imperfecta/Ehlers-Danlos Crossover Syndrome Osteopetrosis Osteopetrosis, Type 2 Osteoporosis-pseudoglioma [sequencing.com]
Vigorous use of water jets should be avoided with fractures, known blood clots, bleeding disorders, severe osteoporosis, open wounds, or during pregnancy. [livingnaturally.com]
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Long Arm
Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. [rarediseases.org]
arm of chromosome 3, at 3q26.1–26.2. 2 Although often regarded as an autosomal recessive trait, there are more than 60 polymorphisms that broadly yield three categories of abnormal function (usual, atypical and ‘in-between’), that is both alleles are [authorstream.com]
Urogenital
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Nephrolithiasis
Anesthesia Myotilinopathy Myotonia Fluctuans Myotonic Dystrophy, Type 1 Nail-Patella Syndrome Naxos Disease Nemaline Myopathy Neonatal Adrenoleukodystrophy Neonatal Alloimmune Thrombocytopenic Purpura, Posttransfusion Purpura Neonatal Death, Leigh Syndrome Nephrolithiasis [sequencing.com]
Neurologic
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Convulsions
induced tonicclonic convulsions and death in BChE(-/-) mice. This suggests that butyrylcholine, like pilocarpine, binds to muscarinic receptors. In conclusion, the BChE(-/-) mouse is a suitable model for human BChE deficiency. [ncbi.nlm.nih.gov]
[…] pseudocholinesterase deficiency: alcohol (internal or inhaled) and perfumes which contain alcohol (neurologic symptoms), valium (depressed me so much I lost memory of three days), insecticides like Diazinon and Baygon (skin and breathing reactions), marijuana (caused convulsions [ehealthforum.com]
[…] pdf Blood 3-5ml in EDTA PAH 261600 Pregnancy loss (Fetal analysis) download Analysis of Solid Tissues .pdf Blood 1-2 mls in Li Hep Skin/placenta - tissue culture media available from lab Paroxysmal Kinesigenic Dyskinesia and benign Familial infantile convulsions [nbt.nhs.uk]
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Flaccid Paralysis
Flaccid paralysis of skeletal muscles develops within 1 minute. [emedicine.medscape.com]
Workup
PowerPoint Presentation: During this period, all metabolic workup was normal- Na 138, K 3.6, CL-100, T3-115ng/ dL ,T4-10.2ug/dl, TSH-4.53Uiu/ml. ABG :-PH 7.303,PCO2 52.7, PO2 186, HCO3- 25.3, SPO2 97.6. [authorstream.com]
X-Ray
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Nephrolithiasis
Anesthesia Myotilinopathy Myotonia Fluctuans Myotonic Dystrophy, Type 1 Nail-Patella Syndrome Naxos Disease Nemaline Myopathy Neonatal Adrenoleukodystrophy Neonatal Alloimmune Thrombocytopenic Purpura, Posttransfusion Purpura Neonatal Death, Leigh Syndrome Nephrolithiasis [sequencing.com]
Treatment
Treatment - Butyrylcholinesterase deficiency People with known pseudocholinesterase deficiency should avoid exposure to sources of choline esters. [checkorphan.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
Treatment If you have a family history of PD or a family member who has problems with anesthesia, tell your doctor prior to any surgery. You can prevent problems by being tested before using the drug. [mayoclinic.org]
Prognosis
Diagnosis - Butyrylcholinesterase deficiency Prognosis - Butyrylcholinesterase deficiency Not supplied. [checkorphan.org]
Prognosis for recovery following administration of succinylcholine is excellent when medical support includes close monitoring and respiratory support measures. [emedicine.medscape.com]
Etiology
Etiology BChE deficiency is a multifactorial disorder. It is caused by mutations in the BChE gene. The BChE gene is located at the E1 locus on chromosome 3 (3q26.1-q26.2) and multiple atypical variants have been identified. [orpha.net]
Epidemiology
Summary Epidemiology The prevalence of BChE deficiency is highest in the Caucasian population with between 3.4 and 4% of the population displaying a partial enzyme deficiency leading to slightly prolonged apnoea (between 5 minutes and 1 hour) and 1 in [orpha.net]
Genatlas disease for BCHE Gene apnea,postanesthetic,suxamethonium sensitivity,hypocholinesterasemia or acholinesterasemia Relevant External Links for BCHE Genetic Association Database (GAD) BCHE Human Genome Epidemiology (HuGE) Navigator BCHE Atlas of [genecards.org]
Pathophysiology
[…] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology [books.google.com]
Fluoride-resistant homozygotes are very rare ( Pathophysiology : Pathophysiology Pseudocholinesterase is a glycoprotein enzyme, produced by the liver, circulating in the plasma. [authorstream.com]
Pathophysiology, 13, 91-93, 2006. 7. Davis, L., et. al. Cholinesterase Its Significance in Anaesthetic Practice. Anaesthesia, 52, 244-260, 1997. 8. [aaltoscientific.com]
Pathophysiology Pseudocholinesterase is a glycoprotein enzyme, produced by the liver, circulating in the plasma. It specifically hydrolyzes exogenous choline esters; however, it has no known physiologic function. [emedicine.medscape.com]
Prevention
Succinylcholine Sensitivity, Apnea, Postanesthetic, Cholinesterase 2 Deficiency, Pseudocholinesterase E1, Suxamethonium Sensitivity, Pseudocholinesterase deficiency Symptoms - Butyrylcholinesterase deficiency Causes - Butyrylcholinesterase deficiency Prevention [checkorphan.org]
You can prevent problems by being tested before you have surgery. Treatment If you have a family history of PD or a family member who has problems with anesthesia, tell your doctor prior to any surgery. [mayoclinic.org]
Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [livingnaturally.com]
Aggregation experiments with the thioflavin T binding studies showed that GE effectively prevented the formation of Aβ oligomers and dissociated the preformed oligomers. [nopr.niscair.res.in]
Other mutations prevent the production of the pseudocholinesterase enzyme. A lack of functional pseudocholinesterase enzyme impairs the body's ability to break down choline ester drugs efficiently, leading to abnormally prolonged drug effects. [ghr.nlm.nih.gov]