Pseudocholinesterase Deficiency malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases
Aliases & Descriptions for Pseudocholinesterase Deficiency:
Orphanet epidemiological data:51
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Inborn errors of metabolism
NIH Rare Diseases:45 Pseudocholinesterase deficiency is a condition that causes increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. these drugs relax the muscles used for movement, including the muscles needed for breathing. they are normally broken down by the body within a few minutes of being given, 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, therefore needing mechanical ventilation until the drugs are cleared from the body. affected individuals may also have increased sensitivity to certain other drugs and to specific agricultural pesticides. pseudocholinesterase deficiency can be inherited in an autosomal recessive manner and caused by mutations in the bche gene, or it can have non-genetic causes in which case it is called acquired pseudocholinesterase deficiency. last updated: 10/16/2013
MalaCards based summary: Pseudocholinesterase Deficiency, also known as butyrylcholinesterase deficiency, is related to renal cell carcinoma and creutzfeldt-jakob disease, and has symptoms including apnea An important gene associated with Pseudocholinesterase Deficiency is BCHE (Butyrylcholinesterase). Affiliated tissues include skeletal muscle, breast and colon.
Genetics Home Reference:23 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.
UniProtKB/Swiss-Prot:67 Butyrylcholinesterase deficiency: A metabolic disorder characterized by prolonged apnea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency.
Wikipedia:68 Pseudocholinesterase deficiency is an inherited blood plasma enzyme abnormality in which the body\'s... more...
Description from OMIM:49 177400
Diseases related to Pseudocholinesterase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:(show all 27)
Graphical network of the top 20 diseases related to Pseudocholinesterase Deficiency:
Drugs for Pseudocholinesterase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 67)
Interventional clinical trials:
Search NIH Clinical Center for Pseudocholinesterase Deficiency
MalaCards organs/tissues related to Pseudocholinesterase Deficiency:33
Skeletal muscle, Breast, Colon, Lung, Monocytes, Endothelial, T cells
Articles related to Pseudocholinesterase Deficiency:(show all 37)
Search GEO for disease gene expression data for Pseudocholinesterase Deficiency.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet