title: Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction.
abstract: The cerebral sphingolipidoses which form part of a larger group of lysosomal disorders can be detected and conclusively confirmed by the demonstration of the relevent enzyme deficiency in easily available tissue samples like serum. We have assayed acid β-galactosidase, β-hexosaminidase and its isozymes hexosaminidase A and B, and arylsulfatase A in the serum of patients with progressive cerebral dysfunction and detected 18 patients with enzyme defects, thereby confirming the diagnosis of a specific type of cerebral lipidosis in these patients. The assay of serum lysosomal enzymes was of immense diagnostic use as it obviated the need for highly invasive techniques like a brain biopsy.
authors.affiliation: Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Post Box 2900, 560029 Bangalore.
authors.forename: R
authors.initials: R
authors.lastname: Christopher
authors.forename: K T
authors.initials: KT
authors.lastname: Shetty
keywords: Cerebral sphingolipidoses; acid β-galactosidase; arylsulphatase A; serum; β-hexosaminidase