title: Arylsulfatase A pseudodeficiency--incidence in Poland.
abstract: Arylsulfatase A (ASA) pseudodeficiency (Pd) was defined as the in vitro measurement of low enzyme activity in a healthy person. A variable incidence of the Pd allele was found in different populations; it was 10-20 times higher than that of metachromatic leukodystrophy (MLD). In Poland we estimated the incidence of the Pd allele at 6% and that of isolated 1788 mutation (loss of glycosylation site) at 3%. Out of 8 cases with neurological symptoms and low ASA activity, 2 were found to be homozygous for the Pd allele; 2 MLD patients had healthy siblings homozygous for the Pd allele and another patient's allele bore two mutations, Pd and that causing MLD.
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: B
authors.initials: B
authors.lastname: Czartoryska
authors.forename: J G
authors.initials: JG
authors.lastname: Zimowski
authors.forename: M
authors.initials: M
authors.lastname: Bisko
authors.forename: D
authors.initials: D
authors.lastname: Górska
mesh_terms: D000483:Alleles; D002553:Cerebroside-Sulfatase / Q000172:deficiency*; D005787:Gene Frequency; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000453:epidemiology* / Q000235:genetics*; D011044:Poland / Q000453:epidemiology
chemical_list: D002553:Cerebroside-Sulfatase