Pseudodeficiency alleles
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A pseudodeficiency allele or pseudodeficiency mutation is a mutation that alters the protein product or changes the gene's expression, but without causing disease. For example, in the lysosomal storage diseases, patients with a pseudodeficiency allele show greatly reduced enzyme activity, yet they remain clinically healthy.
In medical genetics, a false positive result occurs in an enzyme assay test when test results are positive, but disease or morbidity is not present. One possible cause of false positive results is a pseudodeficiency allele. Disease may also be present, but at a subclinical level.