Abstract
Metachromatic leukodystrophy is a lysosomal disease caused mainly by a deficiency of the enzyme arylsulfatase A. The assay of arylsulfatase A in the serum provides a fast and easy method for the confirmatory diagnosis of this disorder. Serum arylsulfatase A was estimated in 52 normal healthy control subjects and 269 patients with symptoms of cerebral white matter disease in order to diagnose and confirm metachromatic leukodystrophy. A total of eight cases of metachromatic leukodystrophy with a low serum arylsulfatase A was detected, of which three cases were of the late-infantile type, four cases the juvenile type and only one case the adult type.
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Christopher, R., Narayanan, C.P., Arunodaya, G.R. et al. Serum arylsulfatase A assay in metachromatic leukodystrophy: An experience in a neuropsychiatric set-up. Indian J Clin Biochem 10, 89–92 (1995). https://doi.org/10.1007/BF02871008
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DOI: https://doi.org/10.1007/BF02871008