Carnitine Acylcarnitine Translocase Deficiency (SLC25A20)
Butyrylcholinesterase deficiency (also known as pseudocholinesterase deficiency) is an autosomal recessive disorder caused by pathogenic variants in the gene BCHE. This gene encodes an enzyme that plays a critical role in drug metabolism, including metabolism of muscle relaxant drugs such as choline esters that are used during general anesthesia. Individuals with this disorder lack functional enzyme, which results in slower drug metabolism and prolonged drug effects. The onset of this condition varies; the condition is usually not identified until there is an abnormal drug reaction. Individuals may not be able to move or breathe on their own for a few hours after the drugs are administered. Many have to undergo mechanical ventilation until the drugs are cleared from their blood. The life expectancy and prevalence of this condition are unknown. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.
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