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.
Original language | English |
---|---|
Pages (from-to) | 89-92 |
Number of pages | 4 |
Journal | Indian Journal of Clinical Biochemistry |
Volume | 10 |
Issue number | 2 |
DOIs | |
Publication status | Published - Jul 1995 |
Externally published | Yes |
Keywords
- Metachromatic leukodystrophy detection
- serum arylsulfatase A
ASJC Scopus subject areas
- Clinical Biochemistry