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Arylsulfatase A pseudodeficiency--incidence in Poland
B Czartoryska1, J G Zimowski, M Bisko
1Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
European Journal of Human Genetics : EJHG
|January 1, 1996
Summary
Arylsulfatase A (ASA) pseudodeficiency (Pd) is common in Poland, affecting 6% of the population. This condition, characterized by low enzyme activity in healthy individuals, is more prevalent than metachromatic leukodystrophy (MLD).
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Arylsulfatase A (ASA) pseudodeficiency (Pd) is defined by low in vitro ASA activity in individuals without clinical symptoms.
- The incidence of the Pd allele varies significantly across different populations, being considerably higher than that of metachromatic leukodystrophy (MLD).
Purpose of the Study:
- To investigate the incidence of the ASA pseudodeficiency allele in the Polish population.
- To explore the genetic basis of neurological symptoms in individuals with low ASA activity.
Main Methods:
- Population-based genetic screening for ASA pseudodeficiency alleles.
- Enzyme activity assays.
- Genotyping of patients with neurological symptoms and low ASA activity.
Main Results:
- The estimated incidence of the ASA Pd allele in Poland is 6%.
- The incidence of the isolated 1788 mutation (affecting a glycosylation site) is 3%.
- Among 8 cases with neurological symptoms and low ASA activity, 2 were homozygous for the Pd allele; 2 MLD patients had healthy siblings homozygous for the Pd allele; one patient carried both Pd and MLD-causing mutations.
Conclusions:
- The ASA pseudodeficiency allele is relatively common in the Polish population.
- Pseudodeficiency alleles can be present in individuals with neurological symptoms, sometimes in combination with MLD-causing mutations, highlighting the complexity of genotype-phenotype correlations in ASA deficiency disorders.