title: [Differentiation between arylsulfatase A deficiency and pseudo-deficiency].
abstract: Metachromatic leukodystrophy (MLD)--lysosomal storage disease caused arylsulfatase A (ARSA) deficiency. Biochemical diagnostic of MLD is complicated by arylsulfatase A pseudodeficiency. There is possibility of mistake in MLD diagnoses in case of pseudodeficiency ARSA and non-MLD neurological disease combination. We suggest the new modification of arylsulfatase A activity detection method which allows to identify the arylsulfatase A pseudodeficiency without molecular genetic methods.
authors.affiliation: Department of Medical Genetics, Clinical Immunology & Allergology, Medical Academy of Postdiploma Education, Kyiv.
authors.forename: N H
authors.initials: NH
authors.lastname: Horovenko
authors.forename: N V
authors.initials: NV
authors.lastname: Ol'khovych
mesh_terms: D000293:Adolescent; D000328:Adult; D001192:Arylsulfatases / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D007966:Leukodystrophy, Metachromatic / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008875:Middle Aged
chemical_list: D001192:Arylsulfatases