This inherited condition can be diagnosed with a blood test. If the total cholinesterase activity in the patient's blood is low, this may suggest an atypical form of the enzyme is present, putting the patient at risk of sensitivity to suxamethonium and related drugs. Inhibition studies may also be performed to give more information about potential risk. In some cases, genetic studies may be carried out to help identify the form of the enzyme that is present.
Pseudocholinesterase deficiency
Cerebral creatine deficiency
Creatine transporter defect
Potassium-aggravated myotonia
Dopamine beta hydroxylase deficiency
Dopamine transporter deficiency syndrome
N-Acetylglutamate synthase deficiency
X-linked myotubular myopathy