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Спадковий дефіцит бутирилхолінестерази

ORPHA:132· ICD-10 E88.0· Hereditary butyrylcholinesterase deficiency

Визначення(English summary)

Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.

Поширеність
1-9 / 100 000
Успадкування
Autosomal recessive
Вік початку
Infancy, Neonatal