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A case of familial hyper-cholinesterasemia associated with isozyme variant band
Insights
Familial hyper-cholinesterase (chE) activity, a genetic condition, was identified in a family. This study highlights a unique isozyme band, aiding in diagnosing inherited high serum chE.
Area of Science:
- Biochemistry
- Genetics
- Enzymology
Background:
- Familial hyper-cholinesterase (chE) activity is a rare inherited condition.
- Previous reports on familial hyper-chE are limited.
- Distinguishing genetic hyper-chE from other causes is crucial.
Observation:
- Seven consanguineous family members exhibited elevated serum chE activity (up to twice the normal level).
- Biochemical, hormonal, and morphological tests excluded other potential causes of hyper-chE, including fatty liver.
- Serum chE isozyme analysis revealed a unique extra band between bands 3 and 4 in affected individuals.
Findings:
- The presence of an extra chE isozyme band (between 3 and 4) is specific to familial hyper-chE.
- This extra band was absent in normal subjects and in individuals with fatty liver and elevated chE.
- The inheritance pattern suggests an autosomal dominant mode for this familial hyper-chE condition.
Implications:
- The detection of the extra chE isozyme band can serve as a diagnostic marker for genetically determined hyper-cholinesterase activity.
- This finding contributes to understanding the molecular basis of inherited hyper-chE.
- Isozyme analysis offers a valuable tool for diagnosing rare genetic enzyme variations.
Abstract:
Familial cases of serum hyper-cholinesterase (chE) activity are reported. The serum chE activity in seven consanguineous members so examined proved to be elevated up to twice the normal level. In these cases, all plausible diseases that might be the culprit for the hyper-chE activity were denied by the biochemical, hormonal, and morphological examinations; fatty liver was excluded by liver biopsy. So far, there have only been two descriptions of familial cases of high serum chE activity. The serum chE isozyme analysis revealed an extra band between bands 3 and 4 only in the subjects associated with serum hyper-chE activity. No definite extra band could be detected in the serum of normal subjects or even in the subjects diagnosed as fatty liver with high level of serum chE activity. The distribution characteristics of the members with the increased chE activity and the existence of an extra band suggest that the inheritance is autosomal dominant. This is the first report to demonstrate an extra band between bands 3 and 4 in cases of familial hyper-chE. The detection of this extra band on serum chE isozyme analysis may be helpful for the diagnosis of genetically determined hyper-chE.