title: Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland.
abstract: 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).
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology, Children's Memorial Health Institute, Warsaw, Poland. lugowska@ipin.edu.pl
authors.forename: A
authors.initials: A
authors.lastname: Lugowska
authors.forename: B
authors.initials: B
authors.lastname: Czartoryska
authors.forename: A
authors.initials: A
authors.lastname: Tylki-Szymańska
authors.forename: M
authors.initials: M
authors.lastname: Bisko
authors.forename: J G
authors.initials: JG
authors.lastname: Zimowski
authors.forename: J
authors.initials: J
authors.lastname: Berger
authors.forename: B
authors.initials: B
authors.lastname: Molzer
mesh_terms: 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
chemical_list: D002553:Cerebroside-Sulfatase