Deficient arylsulfatase-A activity is diagnostic of a neurodegenerative human lysosomal storage disease, metachromatic leukodystrophy. Paradoxically, similar enzyme deficiency also occurs in normal individuals, who are known as being pseudo arylsulfatase-A deficient. We showed previously that this p
Diagnosis of arylsulfatase A deficiency
β Scribed by Li, Z. G. ;Waye, J. S. ;Chang, P. L.
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 780 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0148-7299
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Arylsulfatase A (cerebroside sulfate sulfatase E.C.3.1.6.1.), a lysosomal hydrolase participating in the catabolism of sulfatide (cerebroside sulfate), is assayed in vitro by the synthetic chromogenic sulfate ester of phenol or by the natural sulfatide substrate [l]. Deficiency of arylsulfatase A (A
It had been shown previously that arylsulfatase A activity was attenuated in pseudo arylsulfatase A deficiency fibroblasts and that subunits of the enzyme were smaller than subunits of the enzyme in normal fibroblasts. Attenuated enzyme activity has now been affirmed in other tissues. Subunits of th