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Familial hypercholinesterasemia
Insights
Familial hypercholinesterasemia is identified by an extra cholinesterase C5 band. This genetic trait aids in diagnosing elevated serum cholinesterase levels.
Area of Science:
- Biochemistry
- Clinical Chemistry
- Genetics
Background:
- Familial hypercholinesterasemia is a rare genetic condition affecting cholinesterase enzyme levels.
- Elevated serum cholinesterase can be indicative of various conditions, necessitating accurate differential diagnosis.
Abstract:
A case of familial hypercholinesterasemia was presented. Cholinesterase isoenzyme study revealed the extra C5 band nearer to the cathode than C4 on the gradient polyacrylamide gel electrophoresis in 6 out of 8 subjects in the family. No significant difference in the effect of inhibitors and activator on serum cholinesterase activity of the family with hypercholinesterasemia was found compared to that of the normal control. It was considered to be clinically useful for differential diagnosis of patients with elevated serum cholinesterase to find subjects with familial hypercholinesterasemia.