Related Experiment Videos
Arylsulfatase A pseudodeficiency incidence in Turkey.
1Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
The Turkish Journal of Pediatrics
|August 11, 2000
Summary
Pseudodeficiency (Pd) in arylsulfatase A (ASA) is common in healthy people, causing enzyme activity similar to metachromatic leukodystrophy (MLD). This study found the Pd allele incidence in Turkey to be 11.5%.
Area of Science:
- Biochemistry
- Genetics
- Enzyme activity
Background:
- Pseudodeficiency (Pd) in arylsulfatase A (ASA) is a frequent condition in healthy individuals.
- It causes reduced ASA enzyme activity, mimicking metachromatic leukodystrophy (MLD).
- The incidence of the Pd allele varies significantly across populations, being 10-20 times higher than MLD.
Purpose of the Study:
- To determine the incidence of the ASA Pd allele in the Turkish population.
- To investigate the presence of the Pd allele in patients diagnosed with MLD.
Main Methods:
- Genotyping of healthy individuals and MLD patients to identify ASA Pd alleles.
- Population-based incidence estimation.
Main Results:
- Twelve out of 52 unrelated healthy individuals (23%) were heterozygous for the ASA Pd allele.
- The estimated incidence of the Pd allele in the Turkish population was 11.5%.
- One out of 18 MLD patients was homozygous for the Pd allele, and another was heterozygous.
Conclusions:
- The ASA Pd allele is prevalent in the Turkish population, with a significant carrier frequency.
- The findings highlight the importance of considering Pd allele frequency in genetic counseling and MLD diagnosis.
- Further research is needed to understand the full clinical implications of ASA pseudodeficiency.