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

Respiratory Tract Diseases: 6273
- Respiration Disorders: 18
  - Apnea: 7216
    - Butyrylcholinesterase deficiency: 66
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Respiratory Signs and Symptoms: 25
    - Apnea: 7216
      - Butyrylcholinesterase deficiency: 66
Enzymes and Coenzymes: 1
- Enzymes: 155591
  - Hydrolases: 2206
    - Esterases: 1594
      - Carboxylic Ester Hydrolases: 64
        Cholinesterases: 2720
        Butyrylcholinesterase: 1183
        Butyrylcholinesterase deficiency: 66
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Butyrylcholinesterase deficiency: 66
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Butyrylcholinesterase deficiency: 66

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Disease

Drug/Important Bio-Agent (IBA)