Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland.
Arylsulfatase A (ASA) pseudodeficiency (PD) allele was searched for in 22 patients originating from Poland and suffering from different types of metachromatic leukodystrophy (MLD). Four of them carried the PD allele in a heterozygous state. The prevalence of the PD allele among investigated MLD patients was revealed to be 9%, while the frequency of the PD allele in healthy controls was estimated at 6-7%. One of the examined MLD patients was additionally a carrier of an isolated mutation leading to the loss of the N-glycosylation site. The question arises whether and how MLD mutations create a convenient milieu for PD mutations to occur (or inversely).
Lugowska
A
A
Department of Genetics, Institute of Psychiatry and Neurology, Children's Memorial Health Institute, Warsaw, Poland. lugowska@ipin.edu.pl
Czartoryska
B
B
Tylki-Szymańska
A
A
Bisko
M
M
Zimowski
J G
JG
Berger
J
J
Molzer
B
B
D000483:Alleles; D002553:Cerebroside-Sulfatase / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000453:epidemiology* / Q000235:genetics*; D011044:Poland / Q000453:epidemiology; D015995:Prevalence
D002553:Cerebroside-Sulfatase