Horovenko N H, Ol'khovych N V
Department of Medical Genetics, Clinical Immunology & Allergology, Medical Academy of Postdiploma Education, Kyiv.
Ukr Biokhim Zh (1999). 2003 Sep-Oct;75(5):106-11.
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.